H-InvDB x AHG DB
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H-InvDB_8.3 released on March 26, 2013.
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H-Invitational ID: HIT000283126 Accession number: CR603931 Created date: 26-Mar-2013 Last modified: 20-Apr-2012
Definition: HLA class I histocompatibility antigen, A-1 alpha chain precursor.
 
 

Transcript original information
Accession number CR603931.1
CAGE tag ID NA
EST ID NA
Clone Number CS0DK007YH22
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (HLA-A) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (HLA-A);
Sequence data provider NA
Annotation project NA
Length of cDNA 1473[bp] (No. of exon:8)[A:297 T:291 G:457 C:428]
Devision HTC
Molecular type mRNA
Library origin Cell type NA
Tissue type HeLa cells Cot 25-normalized
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA NA
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) NA
Transcript quality feature NA
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0005684
Genomic location  G-integra Help Chromosome 6
Location 6p22.1
Position 29910325- 29913601
Strand +
Possible duplicated location(s) NA
Gene structure 8 exon(s)
Database links RefSeq NM_002116NR_001434
Ensembl ENST00000355767ENST00000376802ENST00000376806ENST00000376809ENST00000383326ENST00000396634ENST00000420084ENST00000429656ENST00000460542ENST00000461903ENST00000461996ENST00000462184ENST00000462536ENST00000462986ENST00000463148ENST00000464610ENST00000464713ENST00000465498ENST00000468666ENST00000468995ENST00000470534ENST00000470780ENST00000471291ENST00000473059ENST00000476132ENST00000478186ENST00000478258ENST00000478740ENST00000479320ENST00000479494ENST00000479675ENST00000479969ENST00000481018ENST00000484494ENST00000485166ENST00000487534ENST00000488889ENST00000490454ENST00000492107ENST00000492759ENST00000495183ENST00000496081ENST00000499304ENST00000536480
Entrez Gene Entrez Gene ID:3105
KEGG GENES KEGG GENES(3105)
GeneCard GeneCardHLA-A*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS;  G-integraG-integra cDNA-genome alignmentcDNA-genome alignment

Predicted CDS information
HIP ID HIP000036584
Predicted CDS 7..1104;  365[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.832
Database links RefSeq NP_002107
UniProt B1PKY1P04439
CCDS CCDS34373

Motif information
ORF

length(365),orf(7:1104)
MAVMAPRTLLLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVG
YVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDQETRNVKAQSQTDRV
DLGTLRGYYNQSEAGSHTIQIMYGCDVGSDGRFLRGYRQDAYDGKDYIAL
NEDLRSWTAADMAAQITKRKWEAAHEAEQLRAYLDGTCVEWLRRYLENGK
ETLQRTDPPKTHMTHHPISDHEATLRCWALGFYPAEITLTWQRDGEDQTQ
DTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWEL
SSQPTIPIVGIIAGLVLLGAVITGAVVAAVMWRRKSSDRKGGSYTQAASS
DSAQGSDVSLTACKV*
a.a.
length
InterPro Name
length(192), motif(19:210) 192 IPR011161 MHC class I-like antigen recognition [Domain]
length(181), motif(25:205) 181 IPR011162 MHC classes I/II-like antigen recognition protein [Domain]
length(179), motif(25:203) 179 IPR001039 MHC class I, alpha chain, alpha1/alpha2 [Domain]
length(30), motif(83:112) 30 IPR001039 MHC class I, alpha chain, alpha1/alpha2 [Domain]
length(17), motif(115:131) 17 IPR001039 MHC class I, alpha chain, alpha1/alpha2 [Domain]
length(18), motif(136:153) 18 IPR001039 MHC class I, alpha chain, alpha1/alpha2 [Domain]
length(19), motif(181:199) 19 IPR001039 MHC class I, alpha chain, alpha1/alpha2 [Domain]
length(87), motif(209:295) 87 IPR007110 Immunoglobulin-like [Domain]
length(100), motif(211:310) 100 IPR013783 Immunoglobulin-like fold [Domain]
length(76), motif(219:294) 76 IPR003597 Immunoglobulin C1-set [Domain]
length(72), motif(222:293) 72 IPR003597 Immunoglobulin C1-set [Domain]
length(7), motif(281:287) 7 IPR003006 Immunoglobulin/major histocompatibility complex, conserved site [Conserved_site]
length(28), motif(337:364) 28 IPR010579 MHC class I, alpha chain, C-terminal [Domain]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000283126
H-Inv cluster ID Locus viewHIX0005684
Accession number CR603931.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition HLA class I histocompatibility antigen, A-1 alpha chain precursor.
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (NP_002107)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens protein.
Experimental evidence Protein evidence
PubMed ID NA
Gene family/group Gene family H-Inv gene family/group ID HIF0000002
Gene family/group name Major histocompatibility complex (MHC).
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol HLA-A
HGNC aliases NA
HGNC name major histocompatibility complex, class I, A
DDBJ NA
UniProt NA
EC number NA
GGDB
(GlycoGene Database)
Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000036584
No. of interaction 8
Interaction partner(s) HIP000021335HIP000033578HIP000041437HIP000083133HIP000086258HIP000105038HIP000105706HIP000337327
BIND NA
DIP NA
MINT NA
HPRD 03597;  03684;  07408;  08968;  10033;  11762;  17180; 
IntAct NA
Database links RefSeq NM_002116NR_001434
Ensembl ENST00000355767ENST00000376802ENST00000376806ENST00000376809ENST00000383326ENST00000396634ENST00000420084ENST00000429656ENST00000460542ENST00000461903ENST00000461996ENST00000462184ENST00000462536ENST00000462986ENST00000463148ENST00000464610ENST00000464713ENST00000465498ENST00000468666ENST00000468995ENST00000470534ENST00000470780ENST00000471291ENST00000473059ENST00000476132ENST00000478186ENST00000478258ENST00000478740ENST00000479320ENST00000479494ENST00000479675ENST00000479969ENST00000481018ENST00000484494ENST00000485166ENST00000487534ENST00000488889ENST00000490454ENST00000492107ENST00000492759ENST00000495183ENST00000496081ENST00000499304ENST00000536480
Entrez Gene Entrez Gene ID:3105
KEGG GENES KEGG GENES(3105)
GeneCard GeneCardHLA-A*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Auto-annotated
Notes NA
Related H-InvDB links Gene family Similarity Search ToolSimilarity Search Tool;  TACTTACT
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome. 
NA

Gene ontology information
Biological process antigen processing and presentation (GO:0019882);  immune response (GO:0006955); 
Cellular component membrane (GO:0016020);  MHC class I protein complex (GO:0042612); 

Subcellular localization information  Last modified:20-Apr-2012
WoLF PSORT extracellular;  plasma membrane;  lysosome;  Other; 
Target P signal peptide
SOSUI membrane protein
TMHMM membrane protein
PTS1 Twilight zone
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Protein structure information (GTOP) GTOP Last modified:20-Apr-2012
Start End PDB_ID E-value Identity Coverage SCOP_ID
25 205 1a1mA2 3e-50 79.6 181/181 d.19.1.1
207 301 1dr9A2 2e-22 18.3 93/95 b.1.1.3
Related H-InvDB links GTOP GTOP

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:20-Apr-2012
Disease relation Disease name: {Ankylosing spondylitis, susceptibility to, 1} (106300);  Disease name: {Stevens-Johnson syndrome, susceptibility to} (608579); 
Related information in OMIM OMIM ID:  142800;  Title: MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A
Co-localized orphan diseases OMIM ID:  122550143400604519608545610294611724612558
Disease related mutation MutationView:  142800
JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(3105)
Disease Entrez Gene ID:(3105)
Substance Entrez Gene ID:(3105)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo ViewerLEGENDALEGENDA

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
1 .. 1 C/- rs41560424 + 5'UTR
2 .. 2 C/- rs41541316 + 5'UTR
3 .. 3 G/- rs41553515 + 5'UTR
4 .. 4 A/- rs41543016 + 5'UTR
5 .. 5 G/- rs41557620 + 5'UTR
6 .. 6 G/A rs112877416 + 5'UTR
6 .. 6 G/- rs41542718 + 5'UTR
12 .. 12 C/G rs116720806 + CDS Synonymous[Ala2Ala]
12 .. 12 C/G rs113772324 + CDS Synonymous[Ala2Ala]
13 .. 13 G/A rs41541013 + CDS Nonsynonymous[Val3Ile]
16 .. 16 A/G rs116404386 + CDS Nonsynonymous[Met4Val]
16 .. 16 A/G rs113468777 + CDS Nonsynonymous[Met4Val]
16 .. 16 A/G rs79326316 + CDS Nonsynonymous[Met4Val]
19 .. 19 G/C rs41541913 + CDS Nonsynonymous[Ala5Pro]
21 .. 21 G/T rs41548614 + CDS Synonymous[Ala5Ala]
34 .. 34 C/G rs114382139 + CDS Nonsynonymous[Leu10Val]
34 .. 34 C/G rs113259937 + CDS Nonsynonymous[Leu10Val]
34 .. 34 C/G rs1143146 + CDS Nonsynonymous[Leu10Val]
34 .. 34 C/G rs77016084 + CDS Nonsynonymous[Leu10Val]
34 .. 34 C/G rs79473346 + CDS Nonsynonymous[Leu10Val]
47 .. 47 C/T rs115527405 + CDS Nonsynonymous[Ser14Leu]
47 .. 47 C/T rs77245357 + CDS Nonsynonymous[Ser14Leu]
47 .. 47 C/T rs2230954 + CDS Nonsynonymous[Ser14Leu]
47 .. 47 C/T rs77233523 + CDS Nonsynonymous[Ser14Leu]
48 .. 48 G/A rs114226207 + CDS Synonymous[Ser14Ser]
52 .. 52 G/- rs41548119 + CDS
53 .. 53 C/T rs41554816 + CDS Nonsynonymous[Ala16Val]
54 .. 54 C/T rs116698226 + CDS Synonymous[Ala16Ala]
54 .. 54 C/T rs111234930 + CDS Synonymous[Ala16Ala]
54 .. 54 C/T rs74524559 + CDS Synonymous[Ala16Ala]
54 .. 54 C/T rs78573734 + CDS Synonymous[Ala16Ala]
54 .. 54 C/T rs41546314 + CDS Synonymous[Ala16Ala]
73 .. 73 T/A rs76828561 + CDS Nonsynonymous[Trp23Arg]
73 .. 73 T/A rs41564012 + CDS Nonsynonymous[Trp23Arg]
78 .. 78 G/A rs115751338 + CDS Synonymous[Ala24Ala]
78 .. 78 G/A rs74466662 + CDS Synonymous[Ala24Ala]
78 .. 78 G/A rs1136656 + CDS Synonymous[Ala24Ala]
79 .. 79 G/C rs114861372 + CDS Nonsynonymous[Gly25Arg]
84 .. 84 C/T rs115811641 + CDS Synonymous[Ser26Ser]
84 .. 84 C/T rs80316590 + CDS Synonymous[Ser26Ser]
84 .. 84 C/T rs75043149 + CDS Synonymous[Ser26Ser]
84 .. 84 C/T rs1136657 + CDS Synonymous[Ser26Ser]
84 .. 84 C/T rs74579140 + CDS Synonymous[Ser26Ser]
87 .. 87 C/A/G rs41541319 + CDS
93 .. 93 G/A rs72555394 + CDS Nonsynonymous[Met29Ile]
94 .. 94 A/G rs75064259 + CDS Nonsynonymous[Arg30Gly]
95 .. 95 G/A rs117205476 + CDS Nonsynonymous[Arg30Lys]
95 .. 95 G/A rs45585732 + CDS Nonsynonymous[Arg30Lys]
96 .. 96 G/C rs41557419 + CDS Nonsynonymous[Arg30Ser]
98 .. 98 A/G rs41542421 + CDS Nonsynonymous[Tyr31Cys]
103 .. 103 T/A rs115330165 + CDS Nonsynonymous[Phe33Ile]
103 .. 103 T/A rs1136659 + CDS Nonsynonymous[Phe33Ile]
103 .. 103 T/A rs75867621 + CDS Nonsynonymous[Phe33Ile]
104 .. 104 T/A/C rs112039894 + CDS
104 .. 104 T/C rs75436713 + CDS Nonsynonymous[Phe33Ser]
104 .. 104 T/C rs76217816 + CDS Nonsynonymous[Phe33Ser]
104 .. 104 T/C rs80321556 + CDS Nonsynonymous[Phe33Ser]
104 .. 104 T/C/A rs2075684 - CDS
107 .. 107 C/T rs41562020 + CDS Nonsynonymous[Thr34Ile]
108 .. 108 A/C rs111938877 + CDS Synonymous[Thr34Thr]
108 .. 108 A/C/G/T rs1059418 + CDS
109 .. 109 T/A/G rs41553516 + CDS
110 .. 110 C/-/A rs41562820 + CDS
111 .. 111 C/- rs41543612 + CDS
112 .. 112 G/A rs41545116 + CDS Nonsynonymous[Val36Met]
114 .. 114 G/C rs41555114 + CDS Synonymous[Val36Val]
118 .. 118 C/T rs114101108 + CDS Nonsynonymous[Arg38Trp]
118 .. 118 C/T rs76382288 + CDS Nonsynonymous[Arg38Trp]
118 .. 118 C/T rs45569434 + CDS Nonsynonymous[Arg38Trp]
119 .. 119 G/C rs41554918 + CDS Nonsynonymous[Arg38Pro]
123 .. 123 C/T rs45617033 + CDS Synonymous[Pro39Pro]
127 .. 127 C/A/T rs1059423 + CDS
129 .. 129 C/T rs1059426 + CDS Synonymous[Arg41Arg]
130 .. 130 G/A/C rs45442596 + CDS
131 .. 131 G/A rs41560112 + CDS Nonsynonymous[Gly42Glu]
132 .. 132 G/A rs12721672 + CDS Synonymous[Gly42Gly]
133 .. 133 G/A rs41549014 + CDS Nonsynonymous[Glu43Lys]
136 .. 136 C/A rs61759956 + CDS Nonsynonymous[Pro44Thr]
137 .. 137 C/T rs45514001 + CDS Nonsynonymous[Pro44Leu]
141 .. 141 C/A rs72555395 + CDS Synonymous[Arg45Arg]
142 .. 142 T/-/A/C/G rs41545314 + CDS
142 .. 142 T/- rs78046262 + CDS
145 .. 145 A/G rs76355537 + CDS Nonsynonymous[Ile47Val]
148 .. 148 G/A rs115782106 + CDS Nonsynonymous[Ala48Thr]
148 .. 148 G/T rs41552219 + CDS Nonsynonymous[Ala48Ser]
149 .. 149 C/T rs11539954 + CDS Nonsynonymous[Ala48Val]
149 .. 149 C/T rs72555396 + CDS Nonsynonymous[Ala48Val]
150 .. 150 C/A rs113699656 + CDS Synonymous[Ala48Ala]
150 .. 150 C/A/G rs12721675 + CDS
150 .. 150 C/A rs74506695 + CDS Synonymous[Ala48Ala]
151 .. 151 G/A rs41544521 + CDS Nonsynonymous[Val49Met]
152 .. 152 T/G rs28628184 + CDS Nonsynonymous[Val49Gly]
153 .. 153 G/C rs72555397 + CDS Synonymous[Val49Val]
164 .. 164 A/G rs76098253 + CDS Nonsynonymous[Asp53Gly]
166 .. 166 G/A/T rs41549215 + CDS
169 .. 169 A/G/T rs1059438 + CDS
170 .. 170 C/A rs45463999 + CDS Nonsynonymous[Thr55Lys]
177 .. 177 C/A rs41548421 + CDS Nonsynonymous[Phe57Leu]
182 .. 182 G/A rs1059441 + CDS Nonsynonymous[Arg59Gln]
185 .. 185 T/G rs41547916 + CDS Nonsynonymous[Phe60Cys]
186 .. 186 C/T rs113559217 + CDS Synonymous[Phe60Phe]
186 .. 186 C/G/T rs3173429 + CDS
186 .. 186 C/T rs75855780 + CDS Synonymous[Phe60Phe]
187 .. 187 G/C rs11539959 + CDS Nonsynonymous[Asp61His]
192 .. 192 C/A/G rs45491502 + CDS
199 .. 199 G/A rs11539961 + CDS Nonsynonymous[Ala65Thr]
200 .. 200 C/G rs41557613 + CDS Nonsynonymous[Ala65Gly]
206 .. 206 A/G rs115097486 + CDS Nonsynonymous[Gln67Arg]
206 .. 206 A/G rs41559117 + CDS Nonsynonymous[Gln67Arg]
206 .. 206 A/G rs79993619 + CDS Nonsynonymous[Gln67Arg]
209 .. 209 G/A rs112117377 + CDS Nonsynonymous[Arg68Lys]
209 .. 209 G/A/C/T rs707910 + CDS
209 .. 209 G/A rs74655243 + CDS Nonsynonymous[Arg68Lys]
217 .. 217 C/T rs41554420 + CDS Nonsynonymous[Pro71Ser]
218 .. 218 C/T rs41563719 + CDS Nonsynonymous[Pro71Leu]
220 .. 220 C/T rs11539957 + CDS Nonsynonymous[Arg72Trp]
221 .. 221 G/C rs41552215 + CDS Nonsynonymous[Arg72Pro]
222 .. 222 G/A rs41562412 + CDS Synonymous[Arg72Arg]
223 .. 223 G/T rs61759957 + CDS Nonsynonymous[Ala73Ser]
224 .. 224 C/A/G rs72555398 + CDS
225 .. 225 G/A rs114843415 + CDS Synonymous[Ala73Ala]
225 .. 225 G/-/A/C/T rs41563513 + CDS
225 .. 225 G/- rs78050357 + CDS
227 .. 227 C/G/T rs41555915 + CDS
230 .. 230 G/A rs41542016 + CDS AA-STOP[Trp75*]
234 .. 234 A/G rs117162979 + CDS Nonsynonymous[Ile76Met]
234 .. 234 A/G rs41544012 + CDS Nonsynonymous[Ile76Met]
234 .. 234 A/G rs79123579 + CDS Nonsynonymous[Ile76Met]
239 .. 239 A/G rs41559716 + CDS Nonsynonymous[Gln78Arg]
241 .. 241 G/A rs41550321 + CDS Nonsynonymous[Glu79Lys]
242 .. 242 A/T rs75991672 + CDS Nonsynonymous[Glu79Val]
244 .. 244 G/A rs111870118 + CDS Nonsynonymous[Gly80Arg]
244 .. 244 G/A rs79306805 + CDS Nonsynonymous[Gly80Arg]
244 .. 244 G/A rs1059449 + CDS Nonsynonymous[Gly80Arg]
245 .. 245 G/A rs1059451 + CDS Nonsynonymous[Gly80Glu]
246 .. 246 G/T rs112310091 + CDS Synonymous[Gly80Gly]
246 .. 246 G/T rs78625613 + CDS Synonymous[Gly80Gly]
246 .. 246 G/T rs79810254 + CDS Synonymous[Gly80Gly]
246 .. 246 G/T rs1059452 + CDS Synonymous[Gly80Gly]
247 .. 247 C/G rs41560913 + CDS Nonsynonymous[Pro81Ala]
248 .. 248 C/T rs41557815 + CDS Nonsynonymous[Pro81Leu]
249 .. 249 G/T rs113341198 + CDS Synonymous[Pro81Pro]
249 .. 249 G/T rs77821016 + CDS Synonymous[Pro81Pro]
249 .. 249 G/A/T rs41541222 + CDS
251 .. 251 A/C rs72555399 + CDS Nonsynonymous[Glu82Ala]
257 .. 257 G/A rs45523732 + CDS AA-STOP[Trp84*]
258 .. 258 G/- rs41547423 + CDS
259 .. 259 G/-/C rs11539963 + CDS
261 .. 261 C/T rs61759958 + CDS Synonymous[Asp85Asp]
262 .. 262 C/G rs116478746 + CDS Nonsynonymous[Gln86Glu]
262 .. 262 C/G rs74452350 + CDS Nonsynonymous[Gln86Glu]
262 .. 262 C/G rs1059455 + CDS Nonsynonymous[Gln86Glu]
263 .. 263 A/C/G/T rs1064588 + CDS
263 .. 263 A/G rs74446775 + CDS Nonsynonymous[Gln86Arg]
263 .. 263 A/T/G rs113505043 - CDS
265 .. 265 G/A rs116248502 + CDS Nonsynonymous[Glu87Lys]
265 .. 265 G/A rs78658036 + CDS Nonsynonymous[Glu87Lys]
265 .. 265 G/A/C rs2230991 + CDS
267 .. 267 G/C rs115282993 + CDS Nonsynonymous[Glu87Asp]
267 .. 267 G/-/A/C rs1059457 + CDS
270 .. 270 A/-/G rs61759959 + CDS
271 .. 271 C/G rs115720613 + CDS Nonsynonymous[Arg89Gly]
271 .. 271 C/G rs1059459 + CDS Nonsynonymous[Arg89Gly]
272 .. 272 G/- rs61760860 + CDS
273 .. 273 G/- rs61760861 + CDS
274 .. 274 A/-/C rs41563014 + CDS
275 .. 275 A/- rs61760862 + CDS
276 .. 276 T/A rs112599652 + CDS Nonsynonymous[Asn90Lys]
276 .. 276 T/A rs76523677 + CDS Nonsynonymous[Asn90Lys]
276 .. 276 T/A/C rs1059460 + CDS
277 .. 277 G/A rs112909595 + CDS Nonsynonymous[Val91Met]
277 .. 277 G/A rs79361534 + CDS Nonsynonymous[Val91Met]
277 .. 277 G/-/A rs41564215 + CDS
278 .. 278 T/- rs61760863 + CDS
279 .. 279 G/C rs1059462 + CDS Synonymous[Val91Val]
279 .. 279 G/-/A rs63739360 + CDS
280 .. 280 A/- rs61760864 + CDS
281 .. 281 A/-/G rs41560515 + CDS
282 .. 282 G/- rs61760865 + CDS
284 .. 284 C/-/G/T rs41553420 + CDS
285 .. 285 C/- rs61760866 + CDS
286 .. 286 C/- rs61760867 + CDS
287 .. 287 A/-/C/G rs45570938 + CDS
288 .. 288 G/C rs78073371 + CDS Nonsynonymous[Gln94His]
288 .. 288 G/C rs78306866 + CDS Nonsynonymous[Gln94His]
288 .. 288 G/C rs72657642 + CDS Nonsynonymous[Gln94His]
288 .. 288 G/C rs1059463 + CDS Nonsynonymous[Gln94His]
289 .. 289 T/G rs1059467 + CDS Nonsynonymous[Ser95Ala]
289 .. 289 T/- rs63682561 + CDS
290 .. 290 C/- rs61760911 + CDS
291 .. 291 A/- rs61760912 + CDS
292 .. 292 C/- rs61760913 + CDS
293 .. 293 A/- rs61760914 + CDS
294 .. 294 G/- rs61760915 + CDS
295 .. 295 A/-/G rs41564216 + CDS
296 .. 296 C/T rs112276836 + CDS Nonsynonymous[Thr97Ile]
296 .. 296 C/G/T rs1059471 + CDS
298 .. 298 G/C rs74979578 + CDS Nonsynonymous[Asp98His]
298 .. 298 G/C rs75646802 + CDS Nonsynonymous[Asp98His]
298 .. 298 G/A/C rs1136683 + CDS
300 .. 300 C/A/T rs41562515 + CDS
301 .. 301 C/A/T rs41542015 + CDS
303 .. 303 A/C/G rs41556115 + CDS
304 .. 304 G/C rs55780271 + CDS Nonsynonymous[Val100Leu]
305 .. 305 T/C rs115148713 + CDS Nonsynonymous[Val100Ala]
305 .. 305 T/A/C rs1071742 + CDS
306 .. 306 G/A rs77174534 + CDS Synonymous[Val100Val]
307 .. 307 G/A rs113385995 + CDS Nonsynonymous[Asp101Asn]
307 .. 307 G/A rs1136688 + CDS Nonsynonymous[Asp101Asn]
308 .. 308 A/G rs2231004 + CDS Nonsynonymous[Asp101Gly]
309 .. 309 C/A/T rs41555113 + CDS
313 .. 313 G/C rs1136689 + CDS Nonsynonymous[Gly103Arg]
314 .. 314 G/A/C rs41552317 + CDS
315 .. 315 G/T rs61760916 + CDS Synonymous[Gly103Gly]
317 .. 317 C/T rs114427306 + CDS Nonsynonymous[Thr104Ile]
317 .. 317 C/T rs1136690 + CDS Nonsynonymous[Thr104Ile]
319 .. 319 C/G rs9260138 + CDS Nonsynonymous[Leu105Val]
320 .. 320 T/C rs9260139 + CDS Nonsynonymous[Leu105Pro]
322 .. 322 C/A rs78974056 + CDS Nonsynonymous[Arg106Ser]
323 .. 323 G/A/T rs9260140 + CDS
324 .. 324 C/T rs41555621 + CDS Synonymous[Arg106Arg]
325 .. 325 G/C rs117811937 + CDS Nonsynonymous[Gly107Arg]
325 .. 325 G/C rs1136691 + CDS Nonsynonymous[Gly107Arg]
330 .. 330 C/G rs41562119 + CDS AA-STOP[Tyr108*]
331 .. 331 T/C rs45572937 + CDS Nonsynonymous[Tyr109His]
337 .. 337 C/G rs41541814 + CDS Nonsynonymous[Gln111Glu]
339 .. 339 G/A/C rs41555312 + CDS
343 .. 343 G/A rs41559912 + CDS Nonsynonymous[Glu113Lys]
344 .. 344 A/G rs41556317 + CDS Nonsynonymous[Glu113Gly]
345 .. 345 G/A rs41563617 + CDS Synonymous[Glu113Glu]
346 .. 346 G/C rs41555613 + CDS Nonsynonymous[Ala114Pro]
347 .. 347 C/A rs80246530 + CDS Nonsynonymous[Ala114Asp]
347 .. 347 C/A rs1136692 + CDS Nonsynonymous[Ala114Asp]
348 .. 348 C/G rs41544316 + CDS Synonymous[Ala114Ala]
349 .. 349 G/T rs41543912 + CDS Nonsynonymous[Gly115Cys]
351 .. 351 T/G rs41543220 + CDS Synonymous[Gly115Gly]
352 .. 352 T/A/G rs41543114 + CDS
355 .. 355 C/G rs79493767 + CDS Nonsynonymous[His117Asp]
357 .. 357 C/T rs41556913 + CDS Synonymous[His117His]
361 .. 361 A/C rs111457285 + CDS Nonsynonymous[Ile119Leu]
361 .. 361 A/C/G/T rs1071743 + CDS
363 .. 363 C/-/G/T rs41559619 + CDS
364 .. 364 C/- rs41556912 + CDS
365 .. 365 A/-/T rs41546515 + CDS
366 .. 366 G/- rs41550512 + CDS
367 .. 367 A/-/G/T rs41549813 + CDS
368 .. 368 T/G rs116162943 + CDS Nonsynonymous[Ile121Arg]
368 .. 368 T/-/A/G rs3180267 + CDS
369 .. 369 A/G rs111547432 + CDS Nonsynonymous[Ile121Met]
369 .. 369 A/G rs1136695 + CDS Nonsynonymous[Ile121Met]
369 .. 369 A/G rs74992257 + CDS Nonsynonymous[Ile121Met]
370 .. 370 A/T rs74528514 + CDS Nonsynonymous[Met122Leu]
371 .. 371 T/C rs45533435 + CDS Nonsynonymous[Met122Thr]
373 .. 373 T/A/C rs41551416 + CDS
374 .. 374 A/T rs115442991 + CDS Nonsynonymous[Tyr123Phe]
374 .. 374 A/G/T rs1136697 + CDS
374 .. 374 A/T rs79073194 + CDS Nonsynonymous[Tyr123Phe]
379 .. 379 T/- rs41548122 + CDS
380 .. 380 G/- rs41553315 + CDS
381 .. 381 C/- rs41558319 + CDS
382 .. 382 G/-/A/C/T rs41560216 + CDS
383 .. 383 A/- rs41544815 + CDS
384 .. 384 C/- rs41556114 + CDS
385 .. 385 G/A rs56343262 + CDS Nonsynonymous[Val127Met]
391 .. 391 T/C rs111367452 + CDS Nonsynonymous[Ser129Pro]
391 .. 391 T/C rs1136700 + CDS Nonsynonymous[Ser129Pro]
391 .. 391 T/C rs76230189 + CDS Nonsynonymous[Ser129Pro]
393 .. 393 G/C rs45505094 + CDS Synonymous[Ser129Ser]
397 .. 397 G/T rs111686806 + CDS Nonsynonymous[Gly131Trp]
397 .. 397 G/T rs1136702 + CDS Nonsynonymous[Gly131Trp]
397 .. 397 G/T rs74452443 + CDS Nonsynonymous[Gly131Trp]
398 .. 398 G/A rs41557118 + CDS Nonsynonymous[Gly131Glu]
399 .. 399 G/A rs41561714 + CDS Synonymous[Gly131Gly]
401 .. 401 G/A/C rs41561719 + CDS
402 .. 402 C/A rs41559312 + CDS Synonymous[Arg132Arg]
403 .. 403 T/C rs113712567 + CDS Nonsynonymous[Phe133Leu]
403 .. 403 T/C rs1059488 + CDS Nonsynonymous[Phe133Leu]
405 .. 405 C/A rs41560917 + CDS Nonsynonymous[Phe133Leu]
408 .. 408 C/G rs116681107 + CDS Synonymous[Leu134Leu]
408 .. 408 C/G rs41563718 + CDS Synonymous[Leu134Leu]
409 .. 409 C/T rs41543413 + CDS Nonsynonymous[Arg135Cys]
410 .. 410 G/A rs41548812 + CDS Nonsynonymous[Arg135His]
412 .. 412 G/A rs45542135 + CDS Nonsynonymous[Gly136Arg]
414 .. 414 G/T rs61760917 + CDS Synonymous[Gly136Gly]
415 .. 415 T/C rs45444095 + CDS Nonsynonymous[Tyr137His]
417 .. 417 C/T rs41540615 + CDS Synonymous[Tyr137Tyr]
418 .. 418 C/A/G rs41540315 + CDS
419 .. 419 G/A rs111464394 + CDS Nonsynonymous[Arg138Gln]
419 .. 419 G/A/C rs3173420 + CDS
419 .. 419 G/A rs76618411 + CDS Nonsynonymous[Arg138Gln]
419 .. 420 GG/AC rs66488547 + CDS
420 .. 420 G/C rs115176787 + CDS Synonymous[Arg138Arg]
420 .. 420 G/A/C rs12721717 + CDS
420 .. 420 G/C rs78160437 + CDS Synonymous[Arg138Arg]
422 .. 422 A/G rs41560122 + CDS Nonsynonymous[Gln139Arg]
424 .. 424 G/T rs113184014 + CDS Nonsynonymous[Asp140Tyr]
424 .. 424 G/A/C/T rs3173419 + CDS
424 .. 424 G/T rs80183706 + CDS Nonsynonymous[Asp140Tyr]
425 .. 425 A/C/T rs41557212 + CDS
426 .. 426 C/G/T rs41556016 + CDS
429 .. 429 C/T rs111989682 + CDS Synonymous[Ala141Ala]
429 .. 429 C/T rs3173418 + CDS Synonymous[Ala141Ala]
432 .. 432 C/A rs41553319 + CDS AA-STOP[Tyr142*]
433 .. 433 G/T rs41554014 + CDS Nonsynonymous[Asp143Tyr]
436 .. 436 G/C rs78467407 + CDS Nonsynonymous[Gly144Arg]
436 .. 436 G/T rs11539964 + CDS Nonsynonymous[Gly144Cys]
440 .. 440 A/G rs45468091 + CDS Nonsynonymous[Lys145Arg]
451 .. 451 G/T rs41542119 + CDS Nonsynonymous[Ala149Ser]
454 .. 454 C/T rs112792387 + CDS Synonymous[Leu150Leu]
454 .. 454 C/T rs1059506 + CDS Synonymous[Leu150Leu]
454 .. 454 C/T rs75544716 + CDS Synonymous[Leu150Leu]
456 .. 456 G/A rs41558213 + CDS Synonymous[Leu150Leu]
459 .. 459 C/A rs112130472 + CDS Nonsynonymous[Asn151Lys]
459 .. 459 C/A rs76473713 + CDS Nonsynonymous[Asn151Lys]
459 .. 459 C/A rs1059509 + CDS Nonsynonymous[Asn151Lys]
459 .. 459 C/A rs75668521 + CDS Nonsynonymous[Asn151Lys]
460 .. 460 G/C rs45482492 + CDS Nonsynonymous[Glu152Gln]
461 .. 461 A/T rs41563921 + CDS Nonsynonymous[Glu152Val]
462 .. 462 G/A/C rs41558424 + CDS
463 .. 463 G/C rs75592581 + CDS Nonsynonymous[Asp153His]
469 .. 469 C/A rs41552413 + CDS Nonsynonymous[Arg155Ser]
474 .. 474 T/C rs41551213 + CDS Synonymous[Ser156Ser]
481 .. 481 G/C rs76385482 + CDS Nonsynonymous[Ala159Pro]
482 .. 482 C/T rs80300804 + CDS Nonsynonymous[Ala159Val]
483 .. 483 G/A rs41542714 + CDS Synonymous[Ala159Ala]
485 .. 485 C/T rs78923580 + CDS Nonsynonymous[Ala160Val]
486 .. 486 G/A rs41557413 + CDS Synonymous[Ala160Ala]
488 .. 488 A/C rs115404010 + CDS Nonsynonymous[Asp161Ala]
488 .. 488 A/C rs72555400 + CDS Nonsynonymous[Asp161Ala]
490 .. 490 A/G/T rs45474295 + CDS
491 .. 491 T/A/C/G rs41549316 + CDS
492 .. 492 G/C rs79442106 + CDS Nonsynonymous[Met162Ile]
493 .. 493 G/C rs61760918 + CDS Nonsynonymous[Ala163Pro]
494 .. 494 C/A/T rs41548515 + CDS
495 .. 495 G/A rs115532709 + CDS Synonymous[Ala163Ala]
495 .. 495 G/A rs74615302 + CDS Synonymous[Ala163Ala]
495 .. 495 G/A rs1059514 + CDS Synonymous[Ala163Ala]
499 .. 499 C/G/T rs41541518 + CDS
500 .. 500 A/C/G rs41558916 + CDS
502 .. 502 A/T rs41544016 + CDS Nonsynonymous[Ile166Phe]
503 .. 503 T/C rs111853752 + CDS Nonsynonymous[Ile166Thr]
503 .. 503 T/C rs1059516 + CDS Nonsynonymous[Ile166Thr]
504 .. 504 C/T rs41559615 + CDS Synonymous[Ile166Ile]
508 .. 508 A/C rs113413483 + CDS Nonsynonymous[Lys168Gln]
508 .. 508 A/C/G rs1059517 + CDS
508 .. 508 A/C rs76715483 + CDS Nonsynonymous[Lys168Gln]
508 .. 508 A/C rs75473680 - CDS Nonsynonymous[Lys168Gln]
509 .. 509 A/G rs41540118 + CDS Nonsynonymous[Lys168Arg]
512 .. 512 G/A rs111965878 + CDS Nonsynonymous[Arg169His]
512 .. 512 G/A rs1059520 + CDS Nonsynonymous[Arg169His]
516 .. 516 G/A rs78691935 + CDS Synonymous[Lys170Lys]
523 .. 523 G/A rs113286168 + CDS Nonsynonymous[Ala173Thr]
523 .. 523 G/A rs76426804 + CDS Nonsynonymous[Ala173Thr]
523 .. 523 G/A/T rs1059526 + CDS
524 .. 524 C/T rs41544019 + CDS Nonsynonymous[Ala173Val]
525 .. 525 G/A/C rs41557714 + CDS
527 .. 527 C/T rs113119765 + CDS Nonsynonymous[Ala174Val]
527 .. 527 C/T rs1059535 + CDS Nonsynonymous[Ala174Val]
527 .. 527 C/T rs76507145 + CDS Nonsynonymous[Ala174Val]
529 .. 529 C/A rs41562118 + CDS Nonsynonymous[His175Asn]
530 .. 530 A/G rs114929634 + CDS Nonsynonymous[His175Arg]
530 .. 530 A/G/T rs1059536 + CDS
530 .. 530 A/G rs11539956 + CDS Nonsynonymous[His175Arg]
530 .. 530 A/G rs75486381 + CDS Nonsynonymous[His175Arg]
530 .. 530 A/G rs78834059 + CDS Nonsynonymous[His175Arg]
531 .. 531 T/A/C rs41559516 + CDS
532 .. 532 G/C/T rs1059537 + CDS
533 .. 533 A/C/T rs112069136 + CDS
533 .. 533 A/C/G/T rs9256983 + CDS
533 .. 533 A/T rs75099686 + CDS Nonsynonymous[Glu176Val]
533 .. 533 A/T rs76249018 + CDS Nonsynonymous[Glu176Val]
533 .. 533 A/C/T rs79527524 + CDS
536 .. 536 C/-/A/G/T rs41563816 + CDS
537 .. 537 G/A rs41551317 + CDS Synonymous[Ala177Ala]
538 .. 538 G/T rs41564114 + CDS AA-STOP[Glu178*]
541 .. 541 C/T rs77903928 + CDS AA-STOP[Gln179*]
542 .. 542 A/G rs78674188 + CDS Nonsynonymous[Gln179Arg]
544 .. 544 T/C rs116583109 + CDS Synonymous[Leu180Leu]
544 .. 544 T/C rs9260155 + CDS Synonymous[Leu180Leu]
544 .. 544 T/C rs78034433 + CDS Synonymous[Leu180Leu]
545 .. 545 T/A/G rs111578681 + CDS
545 .. 545 T/A/G rs9260156 + CDS
545 .. 545 T/G rs79798406 + CDS Nonsynonymous[Leu180Trp]
545 .. 545 T/G rs76901040 + CDS Nonsynonymous[Leu180Trp]
548 .. 548 G/A/C rs41551921 + CDS
549 .. 549 A/G rs45495505 + CDS Synonymous[Arg181Arg]
550 .. 550 G/C rs41540012 + CDS Nonsynonymous[Ala182Pro]
551 .. 551 C/T rs111509830 + CDS Nonsynonymous[Ala182Val]
551 .. 551 C/T rs9260157 + CDS Nonsynonymous[Ala182Val]
551 .. 551 C/T rs79496020 + CDS Nonsynonymous[Ala182Val]
551 .. 551 C/T rs1059539 + CDS Nonsynonymous[Ala182Val]
556 .. 556 C/T rs72555401 + CDS Synonymous[Leu184Leu]
559 .. 559 G/C/T rs41541015 + CDS
561 .. 561 T/G rs113679013 + CDS Nonsynonymous[Asp185Glu]
561 .. 561 T/G rs76087925 + CDS Nonsynonymous[Asp185Glu]
561 .. 561 T/G rs1059542 + CDS Nonsynonymous[Asp185Glu]
561 .. 561 T/G rs75520084 + CDS Nonsynonymous[Asp185Glu]
561 .. 561 T/G rs78969666 + CDS Nonsynonymous[Asp185Glu]
563 .. 563 G/C rs41545519 + CDS Nonsynonymous[Gly186Ala]
564 .. 564 C/- rs41545516 + CDS
565 .. 565 A/C rs79069981 + CDS Nonsynonymous[Thr187Pro]
565 .. 565 A/T/G/C rs3129018 - CDS
566 .. 566 C/G rs79374907 + CDS Nonsynonymous[Thr187Arg]
566 .. 566 C/T/G/A rs3129017 - CDS
567 .. 567 G/C rs41547914 + CDS Synonymous[Thr187Thr]
569 .. 569 G/C/T rs41552712 + CDS
570 .. 570 C/A rs41558913 + CDS AA-STOP[Cys188*]
571 .. 571 G/A/C/T rs41562120 + CDS
572 .. 572 T/C rs61760919 + CDS Nonsynonymous[Val189Ala]
575 .. 575 A/T rs41560823 + CDS Nonsynonymous[Glu190Val]
576 .. 576 G/C rs74914698 + CDS Nonsynonymous[Glu190Asp]
576 .. 576 G/C rs74544126 + CDS Nonsynonymous[Glu190Asp]
576 .. 576 G/C rs3129016 - CDS Nonsynonymous[Glu190Asp]
577 .. 577 T/A/C/G rs3098019 + CDS
577 .. 577 T/G rs78878174 + CDS Nonsynonymous[Trp191Gly]
577 .. 577 T/G rs76185201 + CDS Nonsynonymous[Trp191Gly]
581 .. 581 T/G rs45572432 + CDS Nonsynonymous[Leu192Arg]
582 .. 582 C/T rs61760920 + CDS Synonymous[Leu192Leu]
588 .. 588 A/C rs45564240 + CDS Nonsynonymous[Arg194Ser]
589 .. 589 T/C rs41563116 + CDS Nonsynonymous[Tyr195His]
592 .. 592 C/G rs41557122 + CDS Nonsynonymous[Leu196Val]
593 .. 593 T/A/G rs45552635 + CDS
595 .. 595 G/A rs41548412 + CDS Nonsynonymous[Glu197Lys]
601 .. 601 G/A/C rs41559916 + CDS
603 .. 603 G/T rs41551117 + CDS Synonymous[Gly199Gly]
607 .. 607 G/A rs41546018 + CDS Nonsynonymous[Glu201Lys]
608 .. 608 A/T rs70944746 + CDS Nonsynonymous[Glu201Val]
611 .. 611 C/T rs9391665 + CDS Nonsynonymous[Thr202Met]
620 .. 620 G/- rs77614923 + CDS
620 .. 620 G/A rs17185861 + CDS Nonsynonymous[Arg205His]
622 .. 622 A/G rs117156320 + CDS Nonsynonymous[Thr206Ala]
622 .. 622 A/G rs41557913 + CDS Nonsynonymous[Thr206Ala]
624 .. 624 G/T rs115073453 + CDS Synonymous[Thr206Thr]
624 .. 624 G/C/T rs41554520 + CDS
625 .. 625 G/A rs62687162 + CDS Nonsynonymous[Asp207Asn]
627 .. 627 C/T rs41544717 + CDS Synonymous[Asp207Asp]
628 .. 628 C/G rs115325458 + CDS Nonsynonymous[Pro208Ala]
628 .. 628 C/G rs1136741 + CDS Nonsynonymous[Pro208Ala]
633 .. 633 C/- rs75368153 + CDS
635 .. 635 A/G rs41557315 + CDS Nonsynonymous[Lys210Arg]
636 .. 636 G/A rs1136746 + CDS Synonymous[Lys210Lys]
639 .. 639 A/G rs1136749 + CDS Synonymous[Thr211Thr]
640 .. 640 C/G rs61760921 + CDS Nonsynonymous[His212Asp]
648 .. 648 C/T rs2231075 + CDS Synonymous[Thr214Thr]
648 .. 648 C/T rs1136754 + CDS Synonymous[Thr214Thr]
651 .. 651 C/T rs45520243 + CDS Synonymous[His215His]
652 .. 652 C/T rs77235917 + CDS Nonsynonymous[His216Tyr]
654 .. 654 C/A/T rs41554113 + CDS
655 .. 655 C/G rs1059563 + CDS Nonsynonymous[Pro217Ala]
656 .. 656 C/G/T rs45562634 + CDS
657 .. 657 C/T rs1059564 + CDS Synonymous[Pro217Pro]
658 .. 658 A/G rs9260179 + CDS Nonsynonymous[Ile218Val]
672 .. 672 G/A rs12721753 + CDS Synonymous[Glu222Glu]
678 .. 678 C/T rs74658171 + CDS Synonymous[Thr224Thr]
678 .. 678 C/T rs76648830 + CDS Synonymous[Thr224Thr]
678 .. 678 C/T rs1059570 + CDS Synonymous[Thr224Thr]
684 .. 684 G/A rs77380700 + CDS Synonymous[Arg226Arg]
684 .. 684 G/A rs12721755 + CDS Synonymous[Arg226Arg]
697 .. 697 G/A rs9260180 + CDS Nonsynonymous[Gly231Ser]
698 .. 698 G/A rs41559423 + CDS Nonsynonymous[Gly231Asp]
705 .. 705 C/A rs61760922 + CDS AA-STOP[Tyr233*]
711 .. 711 G/A rs41562919 + CDS Synonymous[Ala235Ala]
714 .. 714 G/A rs56124255 + CDS Synonymous[Glu236Glu]
721 .. 721 C/T rs41543116 + CDS Synonymous[Leu239Leu]
733 .. 733 C/T rs72558105 + CDS Nonsynonymous[Arg243Trp]
734 .. 734 G/A rs41553815 + CDS Nonsynonymous[Arg243Gln]
748 .. 748 C/T rs41556217 + CDS AA-STOP[Gln248*]
752 .. 752 C/T rs41551612 + CDS Nonsynonymous[Thr249Ile]
756 .. 756 G/- rs66729206 + CDS
756 .. 756 G/C rs45469394 + CDS Nonsynonymous[Gln250His]
756 .. 756 G/- rs113337937 + CDS
756 .. 756 G/- rs60304108 + CDS
757 .. 757 G/- rs45576436 + CDS
757 .. 757 G/C rs59581768 + CDS Nonsynonymous[Asp251His]
761 .. 761 C/T rs61760923 + CDS Nonsynonymous[Thr252Met]
762 .. 762 G/A rs41563538 + CDS Synonymous[Thr252Thr]
768 .. 768 C/T rs76592207 + CDS Synonymous[Leu254Leu]
768 .. 768 C/T rs9260181 + CDS Synonymous[Leu254Leu]
768 .. 768 C/T rs111860546 + CDS Synonymous[Leu254Leu]
769 .. 769 G/A rs74996856 + CDS Nonsynonymous[Val255Met]
769 .. 769 G/A rs80073174 + CDS Nonsynonymous[Val255Met]
769 .. 769 G/A rs60318678 + CDS Nonsynonymous[Val255Met]
771 .. 771 G/T rs41561918 + CDS Synonymous[Val255Val]
774 .. 774 G/C rs41563419 + CDS Nonsynonymous[Glu256Asp]
782 .. 782 C/T rs41550416 + CDS Nonsynonymous[Pro259Leu]
785 .. 785 C/A rs41540417 + CDS Nonsynonymous[Ala260Glu]
786 .. 786 A/- rs79919235 + CDS
786 .. 786 A/-/C rs41563812 + CDS
795 .. 795 A/G rs1059617 + CDS Synonymous[Gly263Gly]
795 .. 795 A/G rs9260182 + CDS Synonymous[Gly263Gly]
795 .. 795 A/G rs80017379 + CDS Synonymous[Gly263Gly]
797 .. 797 C/A rs41548917 + CDS Nonsynonymous[Thr264Asn]
807 .. 807 G/C rs61760924 + CDS Nonsynonymous[Lys267Asn]
812 .. 812 C/T rs41562917 + CDS Nonsynonymous[Ala269Val]
813 .. 813 G/A rs2231092 + CDS Synonymous[Ala269Ala]
813 .. 813 G/A/C rs12721762 + CDS
814 .. 814 G/T rs2231093 + CDS Nonsynonymous[Ala270Ser]
814 .. 814 G/A/T rs1059632 + CDS
817 .. 817 G/A rs77614270 + CDS Nonsynonymous[Val271Met]
825 .. 825 G/A rs78673345 + CDS Synonymous[Val273Val]
825 .. 825 G/A rs41548715 + CDS Synonymous[Val273Val]
825 .. 825 G/A rs1059638 + CDS Synonymous[Val273Val]
835 .. 835 G/C rs75766454 + CDS Nonsynonymous[Glu277Gln]
835 .. 835 G/A/C/T rs2231095 + CDS
841 .. 841 C/A rs1059644 + CDS Nonsynonymous[Gln279Lys]
849 .. 849 C/A rs41555316 + CDS AA-STOP[Tyr281*]
851 .. 851 C/A rs76388977 + CDS Nonsynonymous[Thr282Asn]
859 .. 859 G/A rs56236193 + CDS Nonsynonymous[Val285Met]
864 .. 864 G/T rs11539960 + CDS Nonsynonymous[Gln286His]
872 .. 872 G/A/T rs55678004 + CDS
874 .. 874 C/T rs116447243 + CDS Synonymous[Leu290Leu]
874 .. 874 C/T rs78896137 + CDS Synonymous[Leu290Leu]
874 .. 874 C/T rs1059686 + CDS Synonymous[Leu290Leu]
876 .. 876 G/C rs114818671 + CDS Synonymous[Leu290Leu]
876 .. 876 G/C rs3179236 + CDS Synonymous[Leu290Leu]
876 .. 876 G/C rs1136832 + CDS Synonymous[Leu290Leu]
880 .. 880 A/G rs1136835 + CDS Nonsynonymous[Lys292Glu]
890 .. 890 C/T rs61760925 + CDS Nonsynonymous[Thr295Ile]
896 .. 896 G/C rs41545513 + CDS Nonsynonymous[Arg297Thr]
896 .. 896 G/A rs78135374 + CDS Nonsynonymous[Arg297Lys]
896 .. 896 G/A rs111791728 - CDS Nonsynonymous[Arg297Lys]
905 .. 905 T/C rs116537579 + CDS Nonsynonymous[Leu300Pro]
905 .. 905 T/C rs1136903 + CDS Nonsynonymous[Leu300Pro]
905 .. 905 T/C rs77430870 + CDS Nonsynonymous[Leu300Pro]
905 .. 906 TG/CA rs35946537 - CDS
906 .. 906 G/A rs116678179 + CDS Synonymous[Leu300Leu]
906 .. 906 G/A rs1136917 + CDS Synonymous[Leu300Leu]
906 .. 906 G/A rs78418304 + CDS Synonymous[Leu300Leu]
922 .. 922 A/G rs114694793 + CDS Nonsynonymous[Ile306Val]
922 .. 922 A/G rs1136949 + CDS Nonsynonymous[Ile306Val]
922 .. 922 A/G rs79259093 + CDS Nonsynonymous[Ile306Val]
926 .. 926 C/A rs115629042 + CDS Nonsynonymous[Pro307His]
926 .. 926 C/A rs41558618 + CDS Nonsynonymous[Pro307His]
926 .. 926 C/A rs75326938 + CDS Nonsynonymous[Pro307His]
927 .. 927 C/- rs45483999 + CDS
928 .. 928 A/- rs45528238 + CDS
929 .. 929 T/- rs45498192 + CDS
930 .. 930 C/T rs41555922 + CDS Synonymous[Ile308Ile]
931 .. 931 G/- rs45542447 + CDS
932 .. 932 T/- rs45459392 + CDS
933 .. 933 G/- rs45560239 + CDS
934 .. 934 G/- rs45599732 + CDS
935 .. 935 G/- rs45594832 + CDS
936 .. 936 C/- rs45595138 + CDS
937 .. 937 A/- rs45595537 + CDS
938 .. 938 T/- rs45626140 + CDS
939 .. 939 C/- rs45620136 + CDS
940 .. 940 A/C rs114576045 + CDS Nonsynonymous[Ile312Leu]
940 .. 940 A/C rs41554316 + CDS Nonsynonymous[Ile312Leu]
940 .. 940 A/C rs79552292 - CDS Nonsynonymous[Ile312Leu]
941 .. 941 T/- rs45547531 + CDS
942 .. 942 T/- rs45594138 + CDS
943 .. 943 G/- rs45623735 + CDS
944 .. 944 C/- rs45540136 + CDS
945 .. 945 T/- rs45465701 + CDS
946 .. 946 G/- rs45597331 + CDS
947 .. 947 G/- rs45520735 + CDS
948 .. 948 C/- rs45451595 + CDS
949 .. 949 C/- rs45600843 + CDS
950 .. 950 T/- rs45452399 + CDS
951 .. 951 G/A rs1059846 + CDS Synonymous[Leu315Leu]
952 .. 952 G/- rs45621936 + CDS
953 .. 953 T/- rs45565034 + CDS
954 .. 954 T/- rs45624132 + CDS
955 .. 955 C/- rs45495803 + CDS
956 .. 956 T/- rs45481493 + CDS
957 .. 957 C/- rs45451606 + CDS
958 .. 958 C/T rs115662401 + CDS Nonsynonymous[Leu318Phe]
958 .. 958 C/T rs3179982 + CDS Nonsynonymous[Leu318Phe]
958 .. 958 C/T rs79377647 + CDS Nonsynonymous[Leu318Phe]
959 .. 959 T/- rs45532837 + CDS
960 .. 960 T/- rs45536333 + CDS
961 .. 961 G/- rs45608135 + CDS
962 .. 962 G/C rs41550912 + CDS Nonsynonymous[Gly319Ala]
963 .. 963 A/- rs45492195 + CDS
964 .. 964 G/- rs45512104 + CDS
965 .. 965 C/- rs45521042 + CDS
966 .. 966 T/- rs45476592 + CDS
967 .. 967 G/A rs1059896 + CDS Nonsynonymous[Val321Met]
968 .. 968 T/- rs45558935 + CDS
969 .. 969 G/- rs45513603 + CDS
969 .. 969 G/C rs11539965 + CDS Synonymous[Val321Val]
970 .. 970 A/T rs116025560 + CDS Nonsynonymous[Ile322Phe]
970 .. 970 A/T rs3180278 + CDS Nonsynonymous[Ile322Phe]
971 .. 971 T/- rs45480495 + CDS
972 .. 972 C/- rs45488104 + CDS
973 .. 973 A/G rs115270926 + CDS Nonsynonymous[Thr323Ala]
973 .. 973 A/G rs1137078 + CDS Nonsynonymous[Thr323Ala]
973 .. 973 A/G rs74413311 + CDS Nonsynonymous[Thr323Ala]
974 .. 974 C/- rs45624440 + CDS
975 .. 975 T/- rs45480791 + CDS
976 .. 976 G/- rs45532831 + CDS
977 .. 977 G/- rs45461999 + CDS
978 .. 978 A/- rs45547039 + CDS
979 .. 979 G/- rs45575634 + CDS
980 .. 980 C/- rs45614333 + CDS
981 .. 981 T/- rs45444399 + CDS
982 .. 982 G/- rs45488301 + CDS
983 .. 983 T/- rs45571534 + CDS
984 .. 984 G/- rs45584337 + CDS
985 .. 985 G/- rs45500995 + CDS
986 .. 986 T/- rs45549133 + CDS
987 .. 987 C/- rs45522832 + CDS
988 .. 988 G/- rs45491793 + CDS
989 .. 989 C/- rs45445096 + CDS
990 .. 990 T/- rs45610532 + CDS
991 .. 991 G/- rs45516693 + CDS
992 .. 992 C/- rs45475499 + CDS
993 .. 993 C/T rs115045745 + CDS Synonymous[Ala329Ala]
993 .. 993 C/T rs1141891 + CDS Synonymous[Ala329Ala]
993 .. 993 C/T rs77107686 + CDS Synonymous[Ala329Ala]
994 .. 994 G/- rs45521737 + CDS
995 .. 995 T/- rs45518237 + CDS
996 .. 996 G/- rs45460095 + CDS
997 .. 997 A/- rs45571438 + CDS
998 .. 998 T/G rs2231114 + CDS Nonsynonymous[Met331Arg]
998 .. 998 T/G rs1137110 + CDS Nonsynonymous[Met331Arg]
999 .. 999 G/- rs45496498 + CDS
1000 .. 1000 T/- rs45569533 + CDS
1001 .. 1001 G/- rs45471796 + CDS
1002 .. 1002 G/- rs45523937 + CDS
1003 .. 1003 A/- rs45577032 + CDS
1004 .. 1004 G/A rs116046290 + CDS Nonsynonymous[Arg333Lys]
1004 .. 1004 G/- rs45526834 + CDS
1005 .. 1005 G/- rs45450491 + CDS
1006 .. 1006 A/- rs45525639 + CDS
1007 .. 1007 G/A rs41550119 + CDS Nonsynonymous[Arg334Lys]
1008 .. 1008 G/- rs45608736 + CDS
1009 .. 1009 A/- rs45467691 + CDS
1010 .. 1010 A/- rs45578137 + CDS
1011 .. 1011 G/C rs114680252 + CDS Nonsynonymous[Lys335Asn]
1011 .. 1011 G/C rs1137160 + CDS Nonsynonymous[Lys335Asn]
1012 .. 1012 A/- rs45444302 + CDS
1013 .. 1013 G/- rs45556533 + CDS
1014 .. 1014 C/- rs45562733 + CDS
1015 .. 1015 T/- rs45508194 + CDS
1016 .. 1016 C/- rs45610342 + CDS
1017 .. 1017 A/- rs45606641 + CDS
1018 .. 1018 G/-/C rs45480201 + CDS
1019 .. 1019 A/T rs41551512 + CDS Nonsynonymous[Asp338Val]
1019 .. 1019 A/T rs75118792 + CDS Nonsynonymous[Asp338Val]
1035 .. 1035 T/C rs112145970 + CDS Synonymous[Ser343Ser]
1035 .. 1035 T/C rs1137296 + CDS Synonymous[Ser343Ser]
1035 .. 1035 T/C rs75562132 - CDS Synonymous[Ser343Ser]
1039 .. 1039 A/T rs112256355 + CDS Nonsynonymous[Thr345Ser]
1039 .. 1039 A/T rs2231119 + CDS Nonsynonymous[Thr345Ser]
1039 .. 1039 A/T rs76774052 + CDS Nonsynonymous[Thr345Ser]
1078 .. 1078 G/A rs112893685 + CDS Nonsynonymous[Val358Met]
1078 .. 1078 G/A rs1137631 + CDS Nonsynonymous[Val358Met]
1078 .. 1078 G/A rs76411947 + CDS Nonsynonymous[Val358Met]
1083 .. 1083 C/T rs112763429 + CDS Synonymous[Ser359Ser]
1083 .. 1083 C/T rs2231121 + CDS Synonymous[Ser359Ser]
1083 .. 1083 C/T rs76103396 + CDS Synonymous[Ser359Ser]
1083 .. 1083 C/T rs14288 - CDS Synonymous[Ser359Ser]
1092 .. 1092 T/C rs11539951 - CDS Synonymous[Ala362Ala]
1129 .. 1129 G/A rs45502194 + 3'UTR
1138 .. 1138 G/T rs114971412 + 3'UTR
1138 .. 1138 G/T rs113030556 + 3'UTR
1138 .. 1138 G/T rs1061156 + 3'UTR
1162 .. 1162 A/G rs10853 + 3'UTR
1166 .. 1166 G/C rs115508742 + 3'UTR
1169 .. 1169 G/A rs45574131 + 3'UTR
1170 .. 1170 A/T rs114782388 + 3'UTR
1170 .. 1170 A/T rs1061235 + 3'UTR
1178 .. 1178 C/A rs116614052 + 3'UTR
1182 .. 1182 G/C rs114063957 + 3'UTR
1216 .. 1216 G/A/T rs116388438 + 3'UTR
1216 .. 1216 G/C rs112720956 + 3'UTR
1216 .. 1216 G/A/T rs112634121 + 3'UTR
1216 .. 1216 G/T/C/A rs13395 - 3'UTR
1225 .. 1225 T/C rs114805442 + 3'UTR
1227 .. 1227 A/G rs115569690 + 3'UTR
1239 .. 1239 G/A rs114856781 + 3'UTR
1239 .. 1239 G/A rs113042145 + 3'UTR
1245 .. 1245 A/- rs45551538 + 3'UTR
1246 .. 1246 C/G rs115690949 + 3'UTR
1246 .. 1246 C/G rs112619883 + 3'UTR
1246 .. 1246 C/A/G rs1061815 + 3'UTR
1247 .. 1247 C/T rs41540713 + 3'UTR
1248 .. 1248 A/- rs45459503 + 3'UTR
1249 .. 1249 C/T rs115995593 + 3'UTR
1249 .. 1249 C/- rs45463102 + 3'UTR
1250 .. 1250 C/- rs45571234 + 3'UTR
1251 .. 1251 C/- rs45600545 + 3'UTR
1252 .. 1252 C/G rs8437 + 3'UTR
1253 .. 1253 A/- rs45551745 + 3'UTR
1254 .. 1254 C/- rs45531533 + 3'UTR
1255 .. 1255 C/T rs114092443 + 3'UTR
1255 .. 1255 C/- rs45470699 + 3'UTR
1256 .. 1256 C/- rs45593531 + 3'UTR
1257 .. 1257 C/- rs45494192 + 3'UTR
1258 .. 1258 C/G rs116392944 + 3'UTR
1258 .. 1258 C/G rs41545022 + 3'UTR
1259 .. 1259 A/- rs45585341 + 3'UTR
1260 .. 1260 T/- rs45538040 + 3'UTR
1261 .. 1261 G/- rs45486995 + 3'UTR
1262 .. 1262 T/- rs45517735 + 3'UTR
1263 .. 1263 C/- rs45509991 + 3'UTR
1264 .. 1264 C/- rs45504593 + 3'UTR
1265 .. 1265 A/- rs45546931 + 3'UTR
1266 .. 1266 C/- rs45480891 + 3'UTR
1267 .. 1267 C/- rs45612938 + 3'UTR
1268 .. 1268 A/C rs114915278 + 3'UTR
1268 .. 1268 A/- rs45495992 + 3'UTR
1269 .. 1269 T/- rs45559841 + 3'UTR
1270 .. 1270 G/- rs45546134 + 3'UTR
1271 .. 1271 A/- rs45621439 + 3'UTR
1272 .. 1272 C/- rs45512094 + 3'UTR
1273 .. 1273 C/- rs45504102 + 3'UTR
1274 .. 1274 C/- rs45442794 + 3'UTR
1275 .. 1275 T/- rs45585442 + 3'UTR
1276 .. 1276 C/- rs45448192 + 3'UTR
1277 .. 1277 T/- rs45583836 + 3'UTR
1278 .. 1278 T/- rs45496296 + 3'UTR
1279 .. 1279 C/- rs45599737 + 3'UTR
1280 .. 1280 C/- rs45548333 + 3'UTR
1281 .. 1281 C/- rs45438301 + 3'UTR
1282 .. 1282 A/- rs45569638 + 3'UTR
1283 .. 1283 C/- rs45491092 + 3'UTR
1284 .. 1284 G/- rs45527239 + 3'UTR
1285 .. 1285 C/- rs45598331 + 3'UTR
1286 .. 1286 T/- rs45540039 + 3'UTR
1287 .. 1287 G/- rs45442594 + 3'UTR
1288 .. 1288 A/- rs45603140 + 3'UTR
1289 .. 1289 C/- rs45620034 + 3'UTR
1290 .. 1290 C/- rs45450896 + 3'UTR
1291 .. 1291 T/- rs45604838 + 3'UTR
1292 .. 1292 G/- rs45593834 + 3'UTR
1293 .. 1293 T/- rs45628138 + 3'UTR
1294 .. 1294 G/- rs45456500 + 3'UTR
1295 .. 1295 C/- rs45476492 + 3'UTR
1296 .. 1296 T/C rs7829 + 3'UTR
1297 .. 1297 C/- rs45450301 + 3'UTR
1298 .. 1298 C/- rs45493099 + 3'UTR
1299 .. 1299 C/- rs45515092 + 3'UTR
1300 .. 1300 T/- rs45620237 + 3'UTR
1301 .. 1301 C/- rs45454198 + 3'UTR
1302 .. 1302 C/T rs115913151 + 3'UTR
1302 .. 1302 C/T rs112863520 + 3'UTR
1302 .. 1302 C/-/T rs41562318 + 3'UTR
1303 .. 1303 C/- rs45504101 + 3'UTR
1304 .. 1304 C/- rs45605835 + 3'UTR
1305 .. 1305 A/- rs45583936 + 3'UTR
1306 .. 1306 A/- rs45487692 + 3'UTR
1307 .. 1307 T/- rs45558336 + 3'UTR
1308 .. 1308 C/- rs45524937 + 3'UTR
1309 .. 1309 A/- rs45456597 + 3'UTR
1310 .. 1310 T/- rs45623941 + 3'UTR
1311 .. 1311 C/- rs45552544 + 3'UTR
1312 .. 1312 T/- rs45440201 + 3'UTR
1313 .. 1313 T/- rs45559832 + 3'UTR
1314 .. 1314 T/- rs45543934 + 3'UTR
1315 .. 1315 C/G rs11722 - 3'UTR
1316 .. 1316 C/- rs45472098 + 3'UTR
1317 .. 1317 T/- rs45462799 + 3'UTR
1318 .. 1318 G/- rs45593340 + 3'UTR
1319 .. 1319 T/- rs45606136 + 3'UTR
1320 .. 1320 T/- rs45613735 + 3'UTR
1321 .. 1321 C/G rs116212070 + 3'UTR
1321 .. 1321 C/G rs112129747 + 3'UTR
1321 .. 1321 C/-/G rs41561617 + 3'UTR
1321 .. 1321 C/G rs66585529 + 3'UTR
1322 .. 1322 C/- rs45619131 + 3'UTR
1323 .. 1323 A/- rs45626939 + 3'UTR
1324 .. 1324 G/- rs45618539 + 3'UTR
1325 .. 1325 A/- rs45575141 + 3'UTR
1326 .. 1326 G/- rs45507698 + 3'UTR
1327 .. 1327 A/- rs45446996 + 3'UTR
1328 .. 1328 G/- rs45575239 + 3'UTR
1329 .. 1329 G/- rs45626339 + 3'UTR
1330 .. 1330 T/- rs45453596 + 3'UTR
1331 .. 1331 G/- rs45580932 + 3'UTR
1332 .. 1332 G/- rs45536841 + 3'UTR
1333 .. 1333 G/- rs45570937 + 3'UTR
1334 .. 1334 G/- rs45553331 + 3'UTR
1335 .. 1335 C/- rs45539544 + 3'UTR
1336 .. 1336 T/- rs45451208 + 3'UTR
1337 .. 1337 G/- rs45620633 + 3'UTR
1338 .. 1338 A/- rs45530336 + 3'UTR
1339 .. 1339 G/- rs45500200 + 3'UTR
1340 .. 1340 G/A rs115223995 + 3'UTR
1340 .. 1340 G/- rs45577333 + 3'UTR
1341 .. 1341 T/- rs45526233 + 3'UTR
1342 .. 1342 G/- rs45456194 + 3'UTR
1343 .. 1343 T/- rs45537035 + 3'UTR
1344 .. 1344 C/- rs45494596 + 3'UTR
1345 .. 1345 T/- rs45573338 + 3'UTR
1346 .. 1346 C/- rs45579533 + 3'UTR
1347 .. 1347 C/- rs45535436 + 3'UTR
1348 .. 1348 A/- rs45597634 + 3'UTR
1349 .. 1349 T/C rs1062395 + 3'UTR
1350 .. 1350 C/- rs45470506 + 3'UTR
1351 .. 1351 T/- rs45465194 + 3'UTR
1352 .. 1352 C/- rs45505694 + 3'UTR
1353 .. 1353 T/- rs45596540 + 3'UTR
1354 .. 1354 G/- rs45563531 + 3'UTR
1355 .. 1355 T/C rs116198299 + 3'UTR
1355 .. 1355 T/C rs112984071 + 3'UTR
1355 .. 1355 T/-/C rs41554012 + 3'UTR
1355 .. 1355 T/C rs79244404 + 3'UTR
1356 .. 1356 C/- rs45544838 + 3'UTR
1357 .. 1357 T/- rs45492092 + 3'UTR
1358 .. 1358 C/- rs45544740 + 3'UTR
1359 .. 1359 A/- rs45463497 + 3'UTR
1360 .. 1360 A/- rs45595539 + 3'UTR
1361 .. 1361 C/- rs45593740 + 3'UTR
1362 .. 1362 T/- rs45553739 + 3'UTR
1363 .. 1363 T/- rs45623335 + 3'UTR
1364 .. 1364 C/- rs45618642 + 3'UTR
1365 .. 1365 A/- rs45473905 + 3'UTR
1366 .. 1366 T/- rs45500400 + 3'UTR
1367 .. 1367 G/A rs115149068 + 3'UTR
1367 .. 1367 G/- rs45578437 + 3'UTR
1368 .. 1368 G/- rs45543533 + 3'UTR
1369 .. 1369 T/- rs45603936 + 3'UTR
1370 .. 1370 G/- rs45568640 + 3'UTR
1371 .. 1371 C/- rs45590743 + 3'UTR
1372 .. 1372 A/- rs45475092 + 3'UTR
1373 .. 1373 C/- rs45611933 + 3'UTR
1374 .. 1374 T/- rs45556243 + 3'UTR
1375 .. 1375 G/- rs45496093 + 3'UTR
1376 .. 1376 A/- rs45473502 + 3'UTR
1377 .. 1377 G/- rs45465197 + 3'UTR
1378 .. 1378 C/- rs45453194 + 3'UTR
1379 .. 1379 T/- rs45522736 + 3'UTR
1380 .. 1380 G/- rs45625737 + 3'UTR
1381 .. 1381 T/-/C rs1062405 + 3'UTR
1382 .. 1382 A/- rs45446092 + 3'UTR
1383 .. 1383 A/- rs45465493 + 3'UTR
1384 .. 1384 C/- rs45562932 + 3'UTR
1385 .. 1385 T/- rs45491098 + 3'UTR
1386 .. 1386 T/- rs45599037 + 3'UTR
1387 .. 1387 C/T rs113502457 + 3'UTR
1387 .. 1387 C/-/T rs41557219 + 3'UTR
1387 .. 1387 C/T rs112525507 - 3'UTR
1388 .. 1388 T/- rs45492200 + 3'UTR
1389 .. 1389 T/- rs45546837 + 3'UTR
1390 .. 1390 C/- rs45443405 + 3'UTR
1391 .. 1391 C/- rs45603933 + 3'UTR
1392 .. 1392 T/- rs45574633 + 3'UTR
1393 .. 1393 T/- rs45592540 + 3'UTR
1394 .. 1394 C/- rs45494193 + 3'UTR
1395 .. 1395 C/- rs45626345 + 3'UTR
1396 .. 1396 C/- rs45480592 + 3'UTR
1397 .. 1397 T/- rs45538537 + 3'UTR
1398 .. 1398 A/G rs117754151 + 3'UTR
1398 .. 1398 A/- rs45536931 + 3'UTR
1399 .. 1399 T/- rs45437101 + 3'UTR
1400 .. 1400 T/- rs45527438 + 3'UTR
1401 .. 1401 A/- rs45494891 + 3'UTR
1402 .. 1402 A/- rs45520935 + 3'UTR
1403 .. 1403 A/- rs45516198 + 3'UTR
1404 .. 1404 A/C/T rs45485093 + 3'UTR
1414 .. 1414 T/G rs112959815 + 3'UTR
1414 .. 1414 T/G rs112544912 + 3'UTR
1414 .. 1414 T/G rs113308173 + 3'UTR
1414 .. 1414 T/G rs2499 - 3'UTR
1426 .. 1426 A/C rs9385 + 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer