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: HIT000279891 Accession number: CR600696 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 CR600696.1
CAGE tag ID NA
EST ID NA
Clone Number CS0DE006YH05
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 1340[bp] (No. of exon:8)[A:261 T:243 G:436 C:400]
Devision HTC
Molecular type mRNA
Library origin Cell type NA
Tissue type Placenta
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 29910326- 29913469
Strand +
Possible duplicated location(s) NA
Gene structure 8 exon(s)
Database links RefSeq NM_002116;  NR_001434; 
Ensembl ENST00000355767;  ENST00000376802;  ENST00000376806;  ENST00000376809;  ENST00000383326;  ENST00000396634;  ENST00000420084;  ENST00000429656;  ENST00000460542;  ENST00000461903;  ENST00000461996;  ENST00000462184;  ENST00000462536;  ENST00000462986;  ENST00000463148;  ENST00000464610;  ENST00000464713;  ENST00000465498;  ENST00000468666;  ENST00000468995;  ENST00000470534;  ENST00000470780;  ENST00000471291;  ENST00000473059;  ENST00000476132;  ENST00000478186;  ENST00000478258;  ENST00000478740;  ENST00000479320;  ENST00000479494;  ENST00000479675;  ENST00000479969;  ENST00000481018;  ENST00000484494;  ENST00000485166;  ENST00000487534;  ENST00000488889;  ENST00000490454;  ENST00000492107;  ENST00000492759;  ENST00000495183;  ENST00000496081;  ENST00000499304;  ENST00000536480; 
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 6..1103;  365[aa];  Orientation:+3; 
Codon Adaptation Index (CAI). 0.832
Database links RefSeq NP_002107; 
UniProt B1PKY1;  P04439; 
CCDS CCDS34373; 

Motif information
ORF

length(365),orf(6:1103) 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 HIT000279891
H-Inv cluster ID Locus viewHIX0005684
Accession number CR600696.1
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) HIP000021335;  HIP000033578;  HIP000041437;  HIP000083133;  HIP000086258;  HIP000105038;  HIP000105706;  HIP000337327; 
BIND NA
DIP NA
MINT NA
HPRD 03597;  03684;  07408;  08968;  10033;  11762;  17180; 
IntAct NA
Database links RefSeq NM_002116;  NR_001434; 
Ensembl ENST00000355767;  ENST00000376802;  ENST00000376806;  ENST00000376809;  ENST00000383326;  ENST00000396634;  ENST00000420084;  ENST00000429656;  ENST00000460542;  ENST00000461903;  ENST00000461996;  ENST00000462184;  ENST00000462536;  ENST00000462986;  ENST00000463148;  ENST00000464610;  ENST00000464713;  ENST00000465498;  ENST00000468666;  ENST00000468995;  ENST00000470534;  ENST00000470780;  ENST00000471291;  ENST00000473059;  ENST00000476132;  ENST00000478186;  ENST00000478258;  ENST00000478740;  ENST00000479320;  ENST00000479494;  ENST00000479675;  ENST00000479969;  ENST00000481018;  ENST00000484494;  ENST00000485166;  ENST00000487534;  ENST00000488889;  ENST00000490454;  ENST00000492107;  ENST00000492759;  ENST00000495183;  ENST00000496081;  ENST00000499304;  ENST00000536480; 
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:  122550;  143400;  604519;  608545;  610294;  611724;  612558; 
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 Viewer;  LEGENDALEGENDA; 

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/- rs41541316 + 5'UTR
2 .. 2 G/- rs41553515 + 5'UTR
3 .. 3 A/- rs41543016 + 5'UTR
4 .. 4 G/- rs41557620 + 5'UTR
5 .. 5 G/A rs112877416 + 5'UTR
5 .. 5 G/- rs41542718 + 5'UTR
11 .. 11 C/G rs116720806 + CDS Synonymous[Ala2Ala]
11 .. 11 C/G rs113772324 + CDS Synonymous[Ala2Ala]
12 .. 12 G/A rs41541013 + CDS Nonsynonymous[Val3Ile]
15 .. 15 A/G rs116404386 + CDS Nonsynonymous[Met4Val]
15 .. 15 A/G rs113468777 + CDS Nonsynonymous[Met4Val]
15 .. 15 A/G rs79326316 + CDS Nonsynonymous[Met4Val]
18 .. 18 G/C rs41541913 + CDS Nonsynonymous[Ala5Pro]
20 .. 20 G/T rs41548614 + CDS Synonymous[Ala5Ala]
33 .. 33 C/G rs114382139 + CDS Nonsynonymous[Leu10Val]
33 .. 33 C/G rs113259937 + CDS Nonsynonymous[Leu10Val]
33 .. 33 C/G rs1143146 + CDS Nonsynonymous[Leu10Val]
33 .. 33 C/G rs77016084 + CDS Nonsynonymous[Leu10Val]
33 .. 33 C/G rs79473346 + CDS Nonsynonymous[Leu10Val]
46 .. 46 C/T rs115527405 + CDS Nonsynonymous[Ser14Leu]
46 .. 46 C/T rs77245357 + CDS Nonsynonymous[Ser14Leu]
46 .. 46 C/T rs2230954 + CDS Nonsynonymous[Ser14Leu]
46 .. 46 C/T rs77233523 + CDS Nonsynonymous[Ser14Leu]
47 .. 47 G/A rs114226207 + CDS Synonymous[Ser14Ser]
51 .. 51 G/- rs41548119 + CDS
52 .. 52 C/T rs41554816 + CDS Nonsynonymous[Ala16Val]
53 .. 53 C/T rs116698226 + CDS Synonymous[Ala16Ala]
53 .. 53 C/T rs111234930 + CDS Synonymous[Ala16Ala]
53 .. 53 C/T rs74524559 + CDS Synonymous[Ala16Ala]
53 .. 53 C/T rs78573734 + CDS Synonymous[Ala16Ala]
53 .. 53 C/T rs41546314 + CDS Synonymous[Ala16Ala]
72 .. 72 T/A rs76828561 + CDS Nonsynonymous[Trp23Arg]
72 .. 72 T/A rs41564012 + CDS Nonsynonymous[Trp23Arg]
77 .. 77 G/A rs115751338 + CDS Synonymous[Ala24Ala]
77 .. 77 G/A rs74466662 + CDS Synonymous[Ala24Ala]
77 .. 77 G/A rs1136656 + CDS Synonymous[Ala24Ala]
78 .. 78 G/C rs114861372 + CDS Nonsynonymous[Gly25Arg]
83 .. 83 C/T rs115811641 + CDS Synonymous[Ser26Ser]
83 .. 83 C/T rs80316590 + CDS Synonymous[Ser26Ser]
83 .. 83 C/T rs75043149 + CDS Synonymous[Ser26Ser]
83 .. 83 C/T rs1136657 + CDS Synonymous[Ser26Ser]
83 .. 83 C/T rs74579140 + CDS Synonymous[Ser26Ser]
86 .. 86 C/A/G rs41541319 + CDS
92 .. 92 G/A rs72555394 + CDS Nonsynonymous[Met29Ile]
93 .. 93 A/G rs75064259 + CDS Nonsynonymous[Arg30Gly]
94 .. 94 G/A rs117205476 + CDS Nonsynonymous[Arg30Lys]
94 .. 94 G/A rs45585732 + CDS Nonsynonymous[Arg30Lys]
95 .. 95 G/C rs41557419 + CDS Nonsynonymous[Arg30Ser]
97 .. 97 A/G rs41542421 + CDS Nonsynonymous[Tyr31Cys]
102 .. 102 T/A rs115330165 + CDS Nonsynonymous[Phe33Ile]
102 .. 102 T/A rs1136659 + CDS Nonsynonymous[Phe33Ile]
102 .. 102 T/A rs75867621 + CDS Nonsynonymous[Phe33Ile]
103 .. 103 T/A/C rs112039894 + CDS
103 .. 103 T/C rs75436713 + CDS Nonsynonymous[Phe33Ser]
103 .. 103 T/C rs76217816 + CDS Nonsynonymous[Phe33Ser]
103 .. 103 T/C rs80321556 + CDS Nonsynonymous[Phe33Ser]
103 .. 103 T/C/A rs2075684 - CDS
106 .. 106 C/T rs41562020 + CDS Nonsynonymous[Thr34Ile]
107 .. 107 A/C rs111938877 + CDS Synonymous[Thr34Thr]
107 .. 107 A/C/G/T rs1059418 + CDS
108 .. 108 T/A/G rs41553516 + CDS
109 .. 109 C/-/A rs41562820 + CDS
110 .. 110 C/- rs41543612 + CDS
111 .. 111 G/A rs41545116 + CDS Nonsynonymous[Val36Met]
113 .. 113 G/C rs41555114 + CDS Synonymous[Val36Val]
117 .. 117 C/T rs114101108 + CDS Nonsynonymous[Arg38Trp]
117 .. 117 C/T rs76382288 + CDS Nonsynonymous[Arg38Trp]
117 .. 117 C/T rs45569434 + CDS Nonsynonymous[Arg38Trp]
118 .. 118 G/C rs41554918 + CDS Nonsynonymous[Arg38Pro]
122 .. 122 C/T rs45617033 + CDS Synonymous[Pro39Pro]
126 .. 126 C/A/T rs1059423 + CDS
128 .. 128 C/T rs1059426 + CDS Synonymous[Arg41Arg]
129 .. 129 G/A/C rs45442596 + CDS
130 .. 130 G/A rs41560112 + CDS Nonsynonymous[Gly42Glu]
131 .. 131 G/A rs12721672 + CDS Synonymous[Gly42Gly]
132 .. 132 G/A rs41549014 + CDS Nonsynonymous[Glu43Lys]
135 .. 135 C/A rs61759956 + CDS Nonsynonymous[Pro44Thr]
136 .. 136 C/T rs45514001 + CDS Nonsynonymous[Pro44Leu]
140 .. 140 C/A rs72555395 + CDS Synonymous[Arg45Arg]
141 .. 141 T/-/A/C/G rs41545314 + CDS
141 .. 141 T/- rs78046262 + CDS
144 .. 144 A/G rs76355537 + CDS Nonsynonymous[Ile47Val]
147 .. 147 G/A rs115782106 + CDS Nonsynonymous[Ala48Thr]
147 .. 147 G/T rs41552219 + CDS Nonsynonymous[Ala48Ser]
148 .. 148 C/T rs11539954 + CDS Nonsynonymous[Ala48Val]
148 .. 148 C/T rs72555396 + CDS Nonsynonymous[Ala48Val]
149 .. 149 C/A rs113699656 + CDS Synonymous[Ala48Ala]
149 .. 149 C/A/G rs12721675 + CDS
149 .. 149 C/A rs74506695 + CDS Synonymous[Ala48Ala]
150 .. 150 G/A rs41544521 + CDS Nonsynonymous[Val49Met]
151 .. 151 T/G rs28628184 + CDS Nonsynonymous[Val49Gly]
152 .. 152 G/C rs72555397 + CDS Synonymous[Val49Val]
163 .. 163 A/G rs76098253 + CDS Nonsynonymous[Asp53Gly]
165 .. 165 G/A/T rs41549215 + CDS
168 .. 168 A/G/T rs1059438 + CDS
169 .. 169 C/A rs45463999 + CDS Nonsynonymous[Thr55Lys]
176 .. 176 C/A rs41548421 + CDS Nonsynonymous[Phe57Leu]
181 .. 181 G/A rs1059441 + CDS Nonsynonymous[Arg59Gln]
184 .. 184 T/G rs41547916 + CDS Nonsynonymous[Phe60Cys]
185 .. 185 C/T rs113559217 + CDS Synonymous[Phe60Phe]
185 .. 185 C/G/T rs3173429 + CDS
185 .. 185 C/T rs75855780 + CDS Synonymous[Phe60Phe]
186 .. 186 G/C rs11539959 + CDS Nonsynonymous[Asp61His]
191 .. 191 C/A/G rs45491502 + CDS
198 .. 198 G/A rs11539961 + CDS Nonsynonymous[Ala65Thr]
199 .. 199 C/G rs41557613 + CDS Nonsynonymous[Ala65Gly]
205 .. 205 A/G rs115097486 + CDS Nonsynonymous[Gln67Arg]
205 .. 205 A/G rs41559117 + CDS Nonsynonymous[Gln67Arg]
205 .. 205 A/G rs79993619 + CDS Nonsynonymous[Gln67Arg]
208 .. 208 G/A rs112117377 + CDS Nonsynonymous[Arg68Lys]
208 .. 208 G/A/C/T rs707910 + CDS
208 .. 208 G/A rs74655243 + CDS Nonsynonymous[Arg68Lys]
216 .. 216 C/T rs41554420 + CDS Nonsynonymous[Pro71Ser]
217 .. 217 C/T rs41563719 + CDS Nonsynonymous[Pro71Leu]
219 .. 219 C/T rs11539957 + CDS Nonsynonymous[Arg72Trp]
220 .. 220 G/C rs41552215 + CDS Nonsynonymous[Arg72Pro]
221 .. 221 G/A rs41562412 + CDS Synonymous[Arg72Arg]
222 .. 222 G/T rs61759957 + CDS Nonsynonymous[Ala73Ser]
223 .. 223 C/A/G rs72555398 + CDS
224 .. 224 G/A rs114843415 + CDS Synonymous[Ala73Ala]
224 .. 224 G/-/A/C/T rs41563513 + CDS
224 .. 224 G/- rs78050357 + CDS
226 .. 226 C/G/T rs41555915 + CDS
229 .. 229 G/A rs41542016 + CDS AA-STOP[Trp75*]
233 .. 233 A/G rs117162979 + CDS Nonsynonymous[Ile76Met]
233 .. 233 A/G rs41544012 + CDS Nonsynonymous[Ile76Met]
233 .. 233 A/G rs79123579 + CDS Nonsynonymous[Ile76Met]
238 .. 238 A/G rs41559716 + CDS Nonsynonymous[Gln78Arg]
240 .. 240 G/A rs41550321 + CDS Nonsynonymous[Glu79Lys]
241 .. 241 A/T rs75991672 + CDS Nonsynonymous[Glu79Val]
243 .. 243 G/A rs111870118 + CDS Nonsynonymous[Gly80Arg]
243 .. 243 G/A rs79306805 + CDS Nonsynonymous[Gly80Arg]
243 .. 243 G/A rs1059449 + CDS Nonsynonymous[Gly80Arg]
244 .. 244 G/A rs1059451 + CDS Nonsynonymous[Gly80Glu]
245 .. 245 G/T rs112310091 + CDS Synonymous[Gly80Gly]
245 .. 245 G/T rs78625613 + CDS Synonymous[Gly80Gly]
245 .. 245 G/T rs79810254 + CDS Synonymous[Gly80Gly]
245 .. 245 G/T rs1059452 + CDS Synonymous[Gly80Gly]
246 .. 246 C/G rs41560913 + CDS Nonsynonymous[Pro81Ala]
247 .. 247 C/T rs41557815 + CDS Nonsynonymous[Pro81Leu]
248 .. 248 G/T rs113341198 + CDS Synonymous[Pro81Pro]
248 .. 248 G/T rs77821016 + CDS Synonymous[Pro81Pro]
248 .. 248 G/A/T rs41541222 + CDS
250 .. 250 A/C rs72555399 + CDS Nonsynonymous[Glu82Ala]
256 .. 256 G/A rs45523732 + CDS AA-STOP[Trp84*]
257 .. 257 G/- rs41547423 + CDS
258 .. 258 G/-/C rs11539963 + CDS
260 .. 260 C/T rs61759958 + CDS Synonymous[Asp85Asp]
261 .. 261 C/G rs116478746 + CDS Nonsynonymous[Gln86Glu]
261 .. 261 C/G rs74452350 + CDS Nonsynonymous[Gln86Glu]
261 .. 261 C/G rs1059455 + CDS Nonsynonymous[Gln86Glu]
262 .. 262 A/C/G/T rs1064588 + CDS
262 .. 262 A/G rs74446775 + CDS Nonsynonymous[Gln86Arg]
262 .. 262 A/T/G rs113505043 - CDS
264 .. 264 G/A rs116248502 + CDS Nonsynonymous[Glu87Lys]
264 .. 264 G/A rs78658036 + CDS Nonsynonymous[Glu87Lys]
264 .. 264 G/A/C rs2230991 + CDS
266 .. 266 G/C rs115282993 + CDS Nonsynonymous[Glu87Asp]
266 .. 266 G/-/A/C rs1059457 + CDS
269 .. 269 A/-/G rs61759959 + CDS
270 .. 270 C/G rs115720613 + CDS Nonsynonymous[Arg89Gly]
270 .. 270 C/G rs1059459 + CDS Nonsynonymous[Arg89Gly]
271 .. 271 G/- rs61760860 + CDS
272 .. 272 G/- rs61760861 + CDS
273 .. 273 A/-/C rs41563014 + CDS
274 .. 274 A/- rs61760862 + CDS
275 .. 275 T/A rs112599652 + CDS Nonsynonymous[Asn90Lys]
275 .. 275 T/A rs76523677 + CDS Nonsynonymous[Asn90Lys]
275 .. 275 T/A/C rs1059460 + CDS
276 .. 276 G/A rs112909595 + CDS Nonsynonymous[Val91Met]
276 .. 276 G/A rs79361534 + CDS Nonsynonymous[Val91Met]
276 .. 276 G/-/A rs41564215 + CDS
277 .. 277 T/- rs61760863 + CDS
278 .. 278 G/C rs1059462 + CDS Synonymous[Val91Val]
278 .. 278 G/-/A rs63739360 + CDS
279 .. 279 A/- rs61760864 + CDS
280 .. 280 A/-/G rs41560515 + CDS
281 .. 281 G/- rs61760865 + CDS
283 .. 283 C/-/G/T rs41553420 + CDS
284 .. 284 C/- rs61760866 + CDS
285 .. 285 C/- rs61760867 + CDS
286 .. 286 A/-/C/G rs45570938 + CDS
287 .. 287 G/C rs78073371 + CDS Nonsynonymous[Gln94His]
287 .. 287 G/C rs78306866 + CDS Nonsynonymous[Gln94His]
287 .. 287 G/C rs72657642 + CDS Nonsynonymous[Gln94His]
287 .. 287 G/C rs1059463 + CDS Nonsynonymous[Gln94His]
288 .. 288 T/G rs1059467 + CDS Nonsynonymous[Ser95Ala]
288 .. 288 T/- rs63682561 + CDS
289 .. 289 C/- rs61760911 + CDS
290 .. 290 A/- rs61760912 + CDS
291 .. 291 C/- rs61760913 + CDS
292 .. 292 A/- rs61760914 + CDS
293 .. 293 G/- rs61760915 + CDS
294 .. 294 A/-/G rs41564216 + CDS
295 .. 295 C/T rs112276836 + CDS Nonsynonymous[Thr97Ile]
295 .. 295 C/G/T rs1059471 + CDS
297 .. 297 G/C rs74979578 + CDS Nonsynonymous[Asp98His]
297 .. 297 G/C rs75646802 + CDS Nonsynonymous[Asp98His]
297 .. 297 G/A/C rs1136683 + CDS
299 .. 299 C/A/T rs41562515 + CDS
300 .. 300 C/A/T rs41542015 + CDS
302 .. 302 A/C/G rs41556115 + CDS
303 .. 303 G/C rs55780271 + CDS Nonsynonymous[Val100Leu]
304 .. 304 T/C rs115148713 + CDS Nonsynonymous[Val100Ala]
304 .. 304 T/A/C rs1071742 + CDS
305 .. 305 G/A rs77174534 + CDS Synonymous[Val100Val]
306 .. 306 G/A rs113385995 + CDS Nonsynonymous[Asp101Asn]
306 .. 306 G/A rs1136688 + CDS Nonsynonymous[Asp101Asn]
307 .. 307 A/G rs2231004 + CDS Nonsynonymous[Asp101Gly]
308 .. 308 C/A/T rs41555113 + CDS
312 .. 312 G/C rs1136689 + CDS Nonsynonymous[Gly103Arg]
313 .. 313 G/A/C rs41552317 + CDS
314 .. 314 G/T rs61760916 + CDS Synonymous[Gly103Gly]
316 .. 316 C/T rs114427306 + CDS Nonsynonymous[Thr104Ile]
316 .. 316 C/T rs1136690 + CDS Nonsynonymous[Thr104Ile]
318 .. 318 C/G rs9260138 + CDS Nonsynonymous[Leu105Val]
319 .. 319 T/C rs9260139 + CDS Nonsynonymous[Leu105Pro]
321 .. 321 C/A rs78974056 + CDS Nonsynonymous[Arg106Ser]
322 .. 322 G/A/T rs9260140 + CDS
323 .. 323 C/T rs41555621 + CDS Synonymous[Arg106Arg]
324 .. 324 G/C rs117811937 + CDS Nonsynonymous[Gly107Arg]
324 .. 324 G/C rs1136691 + CDS Nonsynonymous[Gly107Arg]
329 .. 329 C/G rs41562119 + CDS AA-STOP[Tyr108*]
330 .. 330 T/C rs45572937 + CDS Nonsynonymous[Tyr109His]
336 .. 336 C/G rs41541814 + CDS Nonsynonymous[Gln111Glu]
338 .. 338 G/A/C rs41555312 + CDS
342 .. 342 G/A rs41559912 + CDS Nonsynonymous[Glu113Lys]
343 .. 343 A/G rs41556317 + CDS Nonsynonymous[Glu113Gly]
344 .. 344 G/A rs41563617 + CDS Synonymous[Glu113Glu]
345 .. 345 G/C rs41555613 + CDS Nonsynonymous[Ala114Pro]
346 .. 346 C/A rs80246530 + CDS Nonsynonymous[Ala114Asp]
346 .. 346 C/A rs1136692 + CDS Nonsynonymous[Ala114Asp]
347 .. 347 C/G rs41544316 + CDS Synonymous[Ala114Ala]
348 .. 348 G/T rs41543912 + CDS Nonsynonymous[Gly115Cys]
350 .. 350 T/G rs41543220 + CDS Synonymous[Gly115Gly]
351 .. 351 T/A/G rs41543114 + CDS
354 .. 354 C/G rs79493767 + CDS Nonsynonymous[His117Asp]
356 .. 356 C/T rs41556913 + CDS Synonymous[His117His]
360 .. 360 A/C rs111457285 + CDS Nonsynonymous[Ile119Leu]
360 .. 360 A/C/G/T rs1071743 + CDS
362 .. 362 C/-/G/T rs41559619 + CDS
363 .. 363 C/- rs41556912 + CDS
364 .. 364 A/-/T rs41546515 + CDS
365 .. 365 G/- rs41550512 + CDS
366 .. 366 A/-/G/T rs41549813 + CDS
367 .. 367 T/G rs116162943 + CDS Nonsynonymous[Ile121Arg]
367 .. 367 T/-/A/G rs3180267 + CDS
368 .. 368 A/G rs111547432 + CDS Nonsynonymous[Ile121Met]
368 .. 368 A/G rs1136695 + CDS Nonsynonymous[Ile121Met]
368 .. 368 A/G rs74992257 + CDS Nonsynonymous[Ile121Met]
369 .. 369 A/T rs74528514 + CDS Nonsynonymous[Met122Leu]
370 .. 370 T/C rs45533435 + CDS Nonsynonymous[Met122Thr]
372 .. 372 T/A/C rs41551416 + CDS
373 .. 373 A/T rs115442991 + CDS Nonsynonymous[Tyr123Phe]
373 .. 373 A/G/T rs1136697 + CDS
373 .. 373 A/T rs79073194 + CDS Nonsynonymous[Tyr123Phe]
378 .. 378 T/- rs41548122 + CDS
379 .. 379 G/- rs41553315 + CDS
380 .. 380 C/- rs41558319 + CDS
381 .. 381 G/-/A/C/T rs41560216 + CDS
382 .. 382 A/- rs41544815 + CDS
383 .. 383 C/- rs41556114 + CDS
384 .. 384 G/A rs56343262 + CDS Nonsynonymous[Val127Met]
390 .. 390 T/C rs111367452 + CDS Nonsynonymous[Ser129Pro]
390 .. 390 T/C rs1136700 + CDS Nonsynonymous[Ser129Pro]
390 .. 390 T/C rs76230189 + CDS Nonsynonymous[Ser129Pro]
392 .. 392 G/C rs45505094 + CDS Synonymous[Ser129Ser]
396 .. 396 G/T rs111686806 + CDS Nonsynonymous[Gly131Trp]
396 .. 396 G/T rs1136702 + CDS Nonsynonymous[Gly131Trp]
396 .. 396 G/T rs74452443 + CDS Nonsynonymous[Gly131Trp]
397 .. 397 G/A rs41557118 + CDS Nonsynonymous[Gly131Glu]
398 .. 398 G/A rs41561714 + CDS Synonymous[Gly131Gly]
400 .. 400 G/A/C rs41561719 + CDS
401 .. 401 C/A rs41559312 + CDS Synonymous[Arg132Arg]
402 .. 402 T/C rs113712567 + CDS Nonsynonymous[Phe133Leu]
402 .. 402 T/C rs1059488 + CDS Nonsynonymous[Phe133Leu]
404 .. 404 C/A rs41560917 + CDS Nonsynonymous[Phe133Leu]
407 .. 407 C/G rs116681107 + CDS Synonymous[Leu134Leu]
407 .. 407 C/G rs41563718 + CDS Synonymous[Leu134Leu]
408 .. 408 C/T rs41543413 + CDS Nonsynonymous[Arg135Cys]
409 .. 409 G/A rs41548812 + CDS Nonsynonymous[Arg135His]
411 .. 411 G/A rs45542135 + CDS Nonsynonymous[Gly136Arg]
413 .. 413 G/T rs61760917 + CDS Synonymous[Gly136Gly]
414 .. 414 T/C rs45444095 + CDS Nonsynonymous[Tyr137His]
416 .. 416 C/T rs41540615 + CDS Synonymous[Tyr137Tyr]
417 .. 417 C/A/G rs41540315 + CDS
418 .. 418 G/A rs111464394 + CDS Nonsynonymous[Arg138Gln]
418 .. 418 G/A/C rs3173420 + CDS
418 .. 418 G/A rs76618411 + CDS Nonsynonymous[Arg138Gln]
418 .. 419 GG/AC rs66488547 + CDS
419 .. 419 G/C rs115176787 + CDS Synonymous[Arg138Arg]
419 .. 419 G/A/C rs12721717 + CDS
419 .. 419 G/C rs78160437 + CDS Synonymous[Arg138Arg]
421 .. 421 A/G rs41560122 + CDS Nonsynonymous[Gln139Arg]
423 .. 423 G/T rs113184014 + CDS Nonsynonymous[Asp140Tyr]
423 .. 423 G/A/C/T rs3173419 + CDS
423 .. 423 G/T rs80183706 + CDS Nonsynonymous[Asp140Tyr]
424 .. 424 A/C/T rs41557212 + CDS
425 .. 425 C/G/T rs41556016 + CDS
428 .. 428 C/T rs111989682 + CDS Synonymous[Ala141Ala]
428 .. 428 C/T rs3173418 + CDS Synonymous[Ala141Ala]
431 .. 431 C/A rs41553319 + CDS AA-STOP[Tyr142*]
432 .. 432 G/T rs41554014 + CDS Nonsynonymous[Asp143Tyr]
435 .. 435 G/C rs78467407 + CDS Nonsynonymous[Gly144Arg]
435 .. 435 G/T rs11539964 + CDS Nonsynonymous[Gly144Cys]
439 .. 439 A/G rs45468091 + CDS Nonsynonymous[Lys145Arg]
450 .. 450 G/T rs41542119 + CDS Nonsynonymous[Ala149Ser]
453 .. 453 C/T rs112792387 + CDS Synonymous[Leu150Leu]
453 .. 453 C/T rs1059506 + CDS Synonymous[Leu150Leu]
453 .. 453 C/T rs75544716 + CDS Synonymous[Leu150Leu]
455 .. 455 G/A rs41558213 + CDS Synonymous[Leu150Leu]
458 .. 458 C/A rs112130472 + CDS Nonsynonymous[Asn151Lys]
458 .. 458 C/A rs76473713 + CDS Nonsynonymous[Asn151Lys]
458 .. 458 C/A rs1059509 + CDS Nonsynonymous[Asn151Lys]
458 .. 458 C/A rs75668521 + CDS Nonsynonymous[Asn151Lys]
459 .. 459 G/C rs45482492 + CDS Nonsynonymous[Glu152Gln]
460 .. 460 A/T rs41563921 + CDS Nonsynonymous[Glu152Val]
461 .. 461 G/A/C rs41558424 + CDS
462 .. 462 G/C rs75592581 + CDS Nonsynonymous[Asp153His]
468 .. 468 C/A rs41552413 + CDS Nonsynonymous[Arg155Ser]
473 .. 473 T/C rs41551213 + CDS Synonymous[Ser156Ser]
480 .. 480 G/C rs76385482 + CDS Nonsynonymous[Ala159Pro]
481 .. 481 C/T rs80300804 + CDS Nonsynonymous[Ala159Val]
482 .. 482 G/A rs41542714 + CDS Synonymous[Ala159Ala]
484 .. 484 C/T rs78923580 + CDS Nonsynonymous[Ala160Val]
485 .. 485 G/A rs41557413 + CDS Synonymous[Ala160Ala]
487 .. 487 A/C rs115404010 + CDS Nonsynonymous[Asp161Ala]
487 .. 487 A/C rs72555400 + CDS Nonsynonymous[Asp161Ala]
489 .. 489 A/G/T rs45474295 + CDS
490 .. 490 T/A/C/G rs41549316 + CDS
491 .. 491 G/C rs79442106 + CDS Nonsynonymous[Met162Ile]
492 .. 492 G/C rs61760918 + CDS Nonsynonymous[Ala163Pro]
493 .. 493 C/A/T rs41548515 + CDS
494 .. 494 G/A rs115532709 + CDS Synonymous[Ala163Ala]
494 .. 494 G/A rs74615302 + CDS Synonymous[Ala163Ala]
494 .. 494 G/A rs1059514 + CDS Synonymous[Ala163Ala]
498 .. 498 C/G/T rs41541518 + CDS
499 .. 499 A/C/G rs41558916 + CDS
501 .. 501 A/T rs41544016 + CDS Nonsynonymous[Ile166Phe]
502 .. 502 T/C rs111853752 + CDS Nonsynonymous[Ile166Thr]
502 .. 502 T/C rs1059516 + CDS Nonsynonymous[Ile166Thr]
503 .. 503 C/T rs41559615 + CDS Synonymous[Ile166Ile]
507 .. 507 A/C rs113413483 + CDS Nonsynonymous[Lys168Gln]
507 .. 507 A/C/G rs1059517 + CDS
507 .. 507 A/C rs76715483 + CDS Nonsynonymous[Lys168Gln]
507 .. 507 A/C rs75473680 - CDS Nonsynonymous[Lys168Gln]
508 .. 508 A/G rs41540118 + CDS Nonsynonymous[Lys168Arg]
511 .. 511 G/A rs111965878 + CDS Nonsynonymous[Arg169His]
511 .. 511 G/A rs1059520 + CDS Nonsynonymous[Arg169His]
515 .. 515 G/A rs78691935 + CDS Synonymous[Lys170Lys]
522 .. 522 G/A rs113286168 + CDS Nonsynonymous[Ala173Thr]
522 .. 522 G/A rs76426804 + CDS Nonsynonymous[Ala173Thr]
522 .. 522 G/A/T rs1059526 + CDS
523 .. 523 C/T rs41544019 + CDS Nonsynonymous[Ala173Val]
524 .. 524 G/A/C rs41557714 + CDS
526 .. 526 C/T rs113119765 + CDS Nonsynonymous[Ala174Val]
526 .. 526 C/T rs1059535 + CDS Nonsynonymous[Ala174Val]
526 .. 526 C/T rs76507145 + CDS Nonsynonymous[Ala174Val]
528 .. 528 C/A rs41562118 + CDS Nonsynonymous[His175Asn]
529 .. 529 A/G rs114929634 + CDS Nonsynonymous[His175Arg]
529 .. 529 A/G/T rs1059536 + CDS
529 .. 529 A/G rs11539956 + CDS Nonsynonymous[His175Arg]
529 .. 529 A/G rs75486381 + CDS Nonsynonymous[His175Arg]
529 .. 529 A/G rs78834059 + CDS Nonsynonymous[His175Arg]
530 .. 530 T/A/C rs41559516 + CDS
531 .. 531 G/C/T rs1059537 + CDS
532 .. 532 A/C/T rs112069136 + CDS
532 .. 532 A/C/G/T rs9256983 + CDS
532 .. 532 A/T rs75099686 + CDS Nonsynonymous[Glu176Val]
532 .. 532 A/T rs76249018 + CDS Nonsynonymous[Glu176Val]
532 .. 532 A/C/T rs79527524 + CDS
535 .. 535 C/-/A/G/T rs41563816 + CDS
536 .. 536 G/A rs41551317 + CDS Synonymous[Ala177Ala]
537 .. 537 G/T rs41564114 + CDS AA-STOP[Glu178*]
540 .. 540 C/T rs77903928 + CDS AA-STOP[Gln179*]
541 .. 541 A/G rs78674188 + CDS Nonsynonymous[Gln179Arg]
543 .. 543 T/C rs116583109 + CDS Synonymous[Leu180Leu]
543 .. 543 T/C rs9260155 + CDS Synonymous[Leu180Leu]
543 .. 543 T/C rs78034433 + CDS Synonymous[Leu180Leu]
544 .. 544 T/A/G rs111578681 + CDS
544 .. 544 T/A/G rs9260156 + CDS
544 .. 544 T/G rs79798406 + CDS Nonsynonymous[Leu180Trp]
544 .. 544 T/G rs76901040 + CDS Nonsynonymous[Leu180Trp]
547 .. 547 G/A/C rs41551921 + CDS
548 .. 548 A/G rs45495505 + CDS Synonymous[Arg181Arg]
549 .. 549 G/C rs41540012 + CDS Nonsynonymous[Ala182Pro]
550 .. 550 C/T rs111509830 + CDS Nonsynonymous[Ala182Val]
550 .. 550 C/T rs9260157 + CDS Nonsynonymous[Ala182Val]
550 .. 550 C/T rs79496020 + CDS Nonsynonymous[Ala182Val]
550 .. 550 C/T rs1059539 + CDS Nonsynonymous[Ala182Val]
555 .. 555 C/T rs72555401 + CDS Synonymous[Leu184Leu]
558 .. 558 G/C/T rs41541015 + CDS
560 .. 560 T/G rs113679013 + CDS Nonsynonymous[Asp185Glu]
560 .. 560 T/G rs76087925 + CDS Nonsynonymous[Asp185Glu]
560 .. 560 T/G rs1059542 + CDS Nonsynonymous[Asp185Glu]
560 .. 560 T/G rs75520084 + CDS Nonsynonymous[Asp185Glu]
560 .. 560 T/G rs78969666 + CDS Nonsynonymous[Asp185Glu]
562 .. 562 G/C rs41545519 + CDS Nonsynonymous[Gly186Ala]
563 .. 563 C/- rs41545516 + CDS
564 .. 564 A/C rs79069981 + CDS Nonsynonymous[Thr187Pro]
564 .. 564 A/T/G/C rs3129018 - CDS
565 .. 565 C/G rs79374907 + CDS Nonsynonymous[Thr187Arg]
565 .. 565 C/T/G/A rs3129017 - CDS
566 .. 566 G/C rs41547914 + CDS Synonymous[Thr187Thr]
568 .. 568 G/C/T rs41552712 + CDS
569 .. 569 C/A rs41558913 + CDS AA-STOP[Cys188*]
570 .. 570 G/A/C/T rs41562120 + CDS
571 .. 571 T/C rs61760919 + CDS Nonsynonymous[Val189Ala]
574 .. 574 A/T rs41560823 + CDS Nonsynonymous[Glu190Val]
575 .. 575 G/C rs74914698 + CDS Nonsynonymous[Glu190Asp]
575 .. 575 G/C rs74544126 + CDS Nonsynonymous[Glu190Asp]
575 .. 575 G/C rs3129016 - CDS Nonsynonymous[Glu190Asp]
576 .. 576 T/A/C/G rs3098019 + CDS
576 .. 576 T/G rs78878174 + CDS Nonsynonymous[Trp191Gly]
576 .. 576 T/G rs76185201 + CDS Nonsynonymous[Trp191Gly]
580 .. 580 T/G rs45572432 + CDS Nonsynonymous[Leu192Arg]
581 .. 581 C/T rs61760920 + CDS Synonymous[Leu192Leu]
587 .. 587 A/C rs45564240 + CDS Nonsynonymous[Arg194Ser]
588 .. 588 T/C rs41563116 + CDS Nonsynonymous[Tyr195His]
591 .. 591 C/G rs41557122 + CDS Nonsynonymous[Leu196Val]
592 .. 592 T/A/G rs45552635 + CDS
594 .. 594 G/A rs41548412 + CDS Nonsynonymous[Glu197Lys]
600 .. 600 G/A/C rs41559916 + CDS
602 .. 602 G/T rs41551117 + CDS Synonymous[Gly199Gly]
606 .. 606 G/A rs41546018 + CDS Nonsynonymous[Glu201Lys]
607 .. 607 A/T rs70944746 + CDS Nonsynonymous[Glu201Val]
610 .. 610 C/T rs9391665 + CDS Nonsynonymous[Thr202Met]
619 .. 619 G/- rs77614923 + CDS
619 .. 619 G/A rs17185861 + CDS Nonsynonymous[Arg205His]
621 .. 621 A/G rs117156320 + CDS Nonsynonymous[Thr206Ala]
621 .. 621 A/G rs41557913 + CDS Nonsynonymous[Thr206Ala]
623 .. 623 G/T rs115073453 + CDS Synonymous[Thr206Thr]
623 .. 623 G/C/T rs41554520 + CDS
624 .. 624 G/A rs62687162 + CDS Nonsynonymous[Asp207Asn]
626 .. 626 C/T rs41544717 + CDS Synonymous[Asp207Asp]
627 .. 627 C/G rs115325458 + CDS Nonsynonymous[Pro208Ala]
627 .. 627 C/G rs1136741 + CDS Nonsynonymous[Pro208Ala]
632 .. 632 C/- rs75368153 + CDS
634 .. 634 A/G rs41557315 + CDS Nonsynonymous[Lys210Arg]
635 .. 635 G/A rs1136746 + CDS Synonymous[Lys210Lys]
638 .. 638 A/G rs1136749 + CDS Synonymous[Thr211Thr]
639 .. 639 C/G rs61760921 + CDS Nonsynonymous[His212Asp]
647 .. 647 C/T rs2231075 + CDS Synonymous[Thr214Thr]
647 .. 647 C/T rs1136754 + CDS Synonymous[Thr214Thr]
650 .. 650 C/T rs45520243 + CDS Synonymous[His215His]
651 .. 651 C/T rs77235917 + CDS Nonsynonymous[His216Tyr]
653 .. 653 C/A/T rs41554113 + CDS
654 .. 654 C/G rs1059563 + CDS Nonsynonymous[Pro217Ala]
655 .. 655 C/G/T rs45562634 + CDS
656 .. 656 C/T rs1059564 + CDS Synonymous[Pro217Pro]
657 .. 657 A/G rs9260179 + CDS Nonsynonymous[Ile218Val]
671 .. 671 G/A rs12721753 + CDS Synonymous[Glu222Glu]
677 .. 677 C/T rs74658171 + CDS Synonymous[Thr224Thr]
677 .. 677 C/T rs76648830 + CDS Synonymous[Thr224Thr]
677 .. 677 C/T rs1059570 + CDS Synonymous[Thr224Thr]
683 .. 683 G/A rs77380700 + CDS Synonymous[Arg226Arg]
683 .. 683 G/A rs12721755 + CDS Synonymous[Arg226Arg]
696 .. 696 G/A rs9260180 + CDS Nonsynonymous[Gly231Ser]
697 .. 697 G/A rs41559423 + CDS Nonsynonymous[Gly231Asp]
704 .. 704 C/A rs61760922 + CDS AA-STOP[Tyr233*]
710 .. 710 G/A rs41562919 + CDS Synonymous[Ala235Ala]
713 .. 713 G/A rs56124255 + CDS Synonymous[Glu236Glu]
720 .. 720 C/T rs41543116 + CDS Synonymous[Leu239Leu]
732 .. 732 C/T rs72558105 + CDS Nonsynonymous[Arg243Trp]
733 .. 733 G/A rs41553815 + CDS Nonsynonymous[Arg243Gln]
747 .. 747 C/T rs41556217 + CDS AA-STOP[Gln248*]
751 .. 751 C/T rs41551612 + CDS Nonsynonymous[Thr249Ile]
755 .. 755 G/- rs66729206 + CDS
755 .. 755 G/C rs45469394 + CDS Nonsynonymous[Gln250His]
755 .. 755 G/- rs113337937 + CDS
755 .. 755 G/- rs60304108 + CDS
756 .. 756 G/- rs45576436 + CDS
756 .. 756 G/C rs59581768 + CDS Nonsynonymous[Asp251His]
760 .. 760 C/T rs61760923 + CDS Nonsynonymous[Thr252Met]
761 .. 761 G/A rs41563538 + CDS Synonymous[Thr252Thr]
767 .. 767 C/T rs76592207 + CDS Synonymous[Leu254Leu]
767 .. 767 C/T rs9260181 + CDS Synonymous[Leu254Leu]
767 .. 767 C/T rs111860546 + CDS Synonymous[Leu254Leu]
768 .. 768 G/A rs74996856 + CDS Nonsynonymous[Val255Met]
768 .. 768 G/A rs80073174 + CDS Nonsynonymous[Val255Met]
768 .. 768 G/A rs60318678 + CDS Nonsynonymous[Val255Met]
770 .. 770 G/T rs41561918 + CDS Synonymous[Val255Val]
773 .. 773 G/C rs41563419 + CDS Nonsynonymous[Glu256Asp]
781 .. 781 C/T rs41550416 + CDS Nonsynonymous[Pro259Leu]
784 .. 784 C/A rs41540417 + CDS Nonsynonymous[Ala260Glu]
785 .. 785 A/- rs79919235 + CDS
785 .. 785 A/-/C rs41563812 + CDS
794 .. 794 A/G rs1059617 + CDS Synonymous[Gly263Gly]
794 .. 794 A/G rs9260182 + CDS Synonymous[Gly263Gly]
794 .. 794 A/G rs80017379 + CDS Synonymous[Gly263Gly]
796 .. 796 C/A rs41548917 + CDS Nonsynonymous[Thr264Asn]
806 .. 806 G/C rs61760924 + CDS Nonsynonymous[Lys267Asn]
811 .. 811 C/T rs41562917 + CDS Nonsynonymous[Ala269Val]
812 .. 812 G/A rs2231092 + CDS Synonymous[Ala269Ala]
812 .. 812 G/A/C rs12721762 + CDS
813 .. 813 G/T rs2231093 + CDS Nonsynonymous[Ala270Ser]
813 .. 813 G/A/T rs1059632 + CDS
816 .. 816 G/A rs77614270 + CDS Nonsynonymous[Val271Met]
824 .. 824 G/A rs78673345 + CDS Synonymous[Val273Val]
824 .. 824 G/A rs41548715 + CDS Synonymous[Val273Val]
824 .. 824 G/A rs1059638 + CDS Synonymous[Val273Val]
834 .. 834 G/C rs75766454 + CDS Nonsynonymous[Glu277Gln]
834 .. 834 G/A/C/T rs2231095 + CDS
840 .. 840 C/A rs1059644 + CDS Nonsynonymous[Gln279Lys]
848 .. 848 C/A rs41555316 + CDS AA-STOP[Tyr281*]
850 .. 850 C/A rs76388977 + CDS Nonsynonymous[Thr282Asn]
858 .. 858 G/A rs56236193 + CDS Nonsynonymous[Val285Met]
863 .. 863 G/T rs11539960 + CDS Nonsynonymous[Gln286His]
871 .. 871 G/A/T rs55678004 + CDS
873 .. 873 C/T rs116447243 + CDS Synonymous[Leu290Leu]
873 .. 873 C/T rs78896137 + CDS Synonymous[Leu290Leu]
873 .. 873 C/T rs1059686 + CDS Synonymous[Leu290Leu]
875 .. 875 G/C rs114818671 + CDS Synonymous[Leu290Leu]
875 .. 875 G/C rs3179236 + CDS Synonymous[Leu290Leu]
875 .. 875 G/C rs1136832 + CDS Synonymous[Leu290Leu]
879 .. 879 A/G rs1136835 + CDS Nonsynonymous[Lys292Glu]
889 .. 889 C/T rs61760925 + CDS Nonsynonymous[Thr295Ile]
895 .. 895 G/C rs41545513 + CDS Nonsynonymous[Arg297Thr]
895 .. 895 G/A rs78135374 + CDS Nonsynonymous[Arg297Lys]
895 .. 895 G/A rs111791728 - CDS Nonsynonymous[Arg297Lys]
904 .. 904 T/C rs116537579 + CDS Nonsynonymous[Leu300Pro]
904 .. 904 T/C rs1136903 + CDS Nonsynonymous[Leu300Pro]
904 .. 904 T/C rs77430870 + CDS Nonsynonymous[Leu300Pro]
904 .. 905 TG/CA rs35946537 - CDS
905 .. 905 G/A rs116678179 + CDS Synonymous[Leu300Leu]
905 .. 905 G/A rs1136917 + CDS Synonymous[Leu300Leu]
905 .. 905 G/A rs78418304 + CDS Synonymous[Leu300Leu]
921 .. 921 A/G rs114694793 + CDS Nonsynonymous[Ile306Val]
921 .. 921 A/G rs1136949 + CDS Nonsynonymous[Ile306Val]
921 .. 921 A/G rs79259093 + CDS Nonsynonymous[Ile306Val]
925 .. 925 C/A rs115629042 + CDS Nonsynonymous[Pro307His]
925 .. 925 C/A rs41558618 + CDS Nonsynonymous[Pro307His]
925 .. 925 C/A rs75326938 + CDS Nonsynonymous[Pro307His]
926 .. 926 C/- rs45483999 + CDS
927 .. 927 A/- rs45528238 + CDS
928 .. 928 T/- rs45498192 + CDS
929 .. 929 C/T rs41555922 + CDS Synonymous[Ile308Ile]
930 .. 930 G/- rs45542447 + CDS
931 .. 931 T/- rs45459392 + CDS
932 .. 932 G/- rs45560239 + CDS
933 .. 933 G/- rs45599732 + CDS
934 .. 934 G/- rs45594832 + CDS
935 .. 935 C/- rs45595138 + CDS
936 .. 936 A/- rs45595537 + CDS
937 .. 937 T/- rs45626140 + CDS
938 .. 938 C/- rs45620136 + CDS
939 .. 939 A/C rs114576045 + CDS Nonsynonymous[Ile312Leu]
939 .. 939 A/C rs41554316 + CDS Nonsynonymous[Ile312Leu]
939 .. 939 A/C rs79552292 - CDS Nonsynonymous[Ile312Leu]
940 .. 940 T/- rs45547531 + CDS
941 .. 941 T/- rs45594138 + CDS
942 .. 942 G/- rs45623735 + CDS
943 .. 943 C/- rs45540136 + CDS
944 .. 944 T/- rs45465701 + CDS
945 .. 945 G/- rs45597331 + CDS
946 .. 946 G/- rs45520735 + CDS
947 .. 947 C/- rs45451595 + CDS
948 .. 948 C/- rs45600843 + CDS
949 .. 949 T/- rs45452399 + CDS
950 .. 950 G/A rs1059846 + CDS Synonymous[Leu315Leu]
951 .. 951 G/- rs45621936 + CDS
952 .. 952 T/- rs45565034 + CDS
953 .. 953 T/- rs45624132 + CDS
954 .. 954 C/- rs45495803 + CDS
955 .. 955 T/- rs45481493 + CDS
956 .. 956 C/- rs45451606 + CDS
957 .. 957 C/T rs115662401 + CDS Nonsynonymous[Leu318Phe]
957 .. 957 C/T rs3179982 + CDS Nonsynonymous[Leu318Phe]
957 .. 957 C/T rs79377647 + CDS Nonsynonymous[Leu318Phe]
958 .. 958 T/- rs45532837 + CDS
959 .. 959 T/- rs45536333 + CDS
960 .. 960 G/- rs45608135 + CDS
961 .. 961 G/C rs41550912 + CDS Nonsynonymous[Gly319Ala]
962 .. 962 A/- rs45492195 + CDS
963 .. 963 G/- rs45512104 + CDS
964 .. 964 C/- rs45521042 + CDS
965 .. 965 T/- rs45476592 + CDS
966 .. 966 G/A rs1059896 + CDS Nonsynonymous[Val321Met]
967 .. 967 T/- rs45558935 + CDS
968 .. 968 G/- rs45513603 + CDS
968 .. 968 G/C rs11539965 + CDS Synonymous[Val321Val]
969 .. 969 A/T rs116025560 + CDS Nonsynonymous[Ile322Phe]
969 .. 969 A/T rs3180278 + CDS Nonsynonymous[Ile322Phe]
970 .. 970 T/- rs45480495 + CDS
971 .. 971 C/- rs45488104 + CDS
972 .. 972 A/G rs115270926 + CDS Nonsynonymous[Thr323Ala]
972 .. 972 A/G rs1137078 + CDS Nonsynonymous[Thr323Ala]
972 .. 972 A/G rs74413311 + CDS Nonsynonymous[Thr323Ala]
973 .. 973 C/- rs45624440 + CDS
974 .. 974 T/- rs45480791 + CDS
975 .. 975 G/- rs45532831 + CDS
976 .. 976 G/- rs45461999 + CDS
977 .. 977 A/- rs45547039 + CDS
978 .. 978 G/- rs45575634 + CDS
979 .. 979 C/- rs45614333 + CDS
980 .. 980 T/- rs45444399 + CDS
981 .. 981 G/- rs45488301 + CDS
982 .. 982 T/- rs45571534 + CDS
983 .. 983 G/- rs45584337 + CDS
984 .. 984 G/- rs45500995 + CDS
985 .. 985 T/- rs45549133 + CDS
986 .. 986 C/- rs45522832 + CDS
987 .. 987 G/- rs45491793 + CDS
988 .. 988 C/- rs45445096 + CDS
989 .. 989 T/- rs45610532 + CDS
990 .. 990 G/- rs45516693 + CDS
991 .. 991 C/- rs45475499 + CDS
992 .. 992 C/T rs115045745 + CDS Synonymous[Ala329Ala]
992 .. 992 C/T rs1141891 + CDS Synonymous[Ala329Ala]
992 .. 992 C/T rs77107686 + CDS Synonymous[Ala329Ala]
993 .. 993 G/- rs45521737 + CDS
994 .. 994 T/- rs45518237 + CDS
995 .. 995 G/- rs45460095 + CDS
996 .. 996 A/- rs45571438 + CDS
997 .. 997 T/G rs2231114 + CDS Nonsynonymous[Met331Arg]
997 .. 997 T/G rs1137110 + CDS Nonsynonymous[Met331Arg]
998 .. 998 G/- rs45496498 + CDS
999 .. 999 T/- rs45569533 + CDS
1000 .. 1000 G/- rs45471796 + CDS
1001 .. 1001 G/- rs45523937 + CDS
1002 .. 1002 A/- rs45577032 + CDS
1003 .. 1003 G/A rs116046290 + CDS Nonsynonymous[Arg333Lys]
1003 .. 1003 G/- rs45526834 + CDS
1004 .. 1004 G/- rs45450491 + CDS
1005 .. 1005 A/- rs45525639 + CDS
1006 .. 1006 G/A rs41550119 + CDS Nonsynonymous[Arg334Lys]
1007 .. 1007 G/- rs45608736 + CDS
1008 .. 1008 A/- rs45467691 + CDS
1009 .. 1009 A/- rs45578137 + CDS
1010 .. 1010 G/C rs114680252 + CDS Nonsynonymous[Lys335Asn]
1010 .. 1010 G/C rs1137160 + CDS Nonsynonymous[Lys335Asn]
1011 .. 1011 A/- rs45444302 + CDS
1012 .. 1012 G/- rs45556533 + CDS
1013 .. 1013 C/- rs45562733 + CDS
1014 .. 1014 T/- rs45508194 + CDS
1015 .. 1015 C/- rs45610342 + CDS
1016 .. 1016 A/- rs45606641 + CDS
1017 .. 1017 G/-/C rs45480201 + CDS
1018 .. 1018 A/T rs41551512 + CDS Nonsynonymous[Asp338Val]
1018 .. 1018 A/T rs75118792 + CDS Nonsynonymous[Asp338Val]
1034 .. 1034 T/C rs112145970 + CDS Synonymous[Ser343Ser]
1034 .. 1034 T/C rs1137296 + CDS Synonymous[Ser343Ser]
1034 .. 1034 T/C rs75562132 - CDS Synonymous[Ser343Ser]
1038 .. 1038 A/T rs112256355 + CDS Nonsynonymous[Thr345Ser]
1038 .. 1038 A/T rs2231119 + CDS Nonsynonymous[Thr345Ser]
1038 .. 1038 A/T rs76774052 + CDS Nonsynonymous[Thr345Ser]
1077 .. 1077 G/A rs112893685 + CDS Nonsynonymous[Val358Met]
1077 .. 1077 G/A rs1137631 + CDS Nonsynonymous[Val358Met]
1077 .. 1077 G/A rs76411947 + CDS Nonsynonymous[Val358Met]
1082 .. 1082 C/T rs112763429 + CDS Synonymous[Ser359Ser]
1082 .. 1082 C/T rs2231121 + CDS Synonymous[Ser359Ser]
1082 .. 1082 C/T rs76103396 + CDS Synonymous[Ser359Ser]
1082 .. 1082 C/T rs14288 - CDS Synonymous[Ser359Ser]
1091 .. 1091 T/C rs11539951 - CDS Synonymous[Ala362Ala]
1128 .. 1128 G/A rs45502194 + 3'UTR
1137 .. 1137 G/T rs114971412 + 3'UTR
1137 .. 1137 G/T rs113030556 + 3'UTR
1137 .. 1137 G/T rs1061156 + 3'UTR
1161 .. 1161 A/G rs10853 + 3'UTR
1165 .. 1165 G/C rs115508742 + 3'UTR
1168 .. 1168 G/A rs45574131 + 3'UTR
1169 .. 1169 A/T rs114782388 + 3'UTR
1169 .. 1169 A/T rs1061235 + 3'UTR
1177 .. 1177 C/A rs116614052 + 3'UTR
1181 .. 1181 G/C rs114063957 + 3'UTR
1215 .. 1215 G/A/T rs116388438 + 3'UTR
1215 .. 1215 G/C rs112720956 + 3'UTR
1215 .. 1215 G/A/T rs112634121 + 3'UTR
1215 .. 1215 G/T/C/A rs13395 - 3'UTR
1224 .. 1224 T/C rs114805442 + 3'UTR
1226 .. 1226 A/G rs115569690 + 3'UTR
1238 .. 1238 G/A rs114856781 + 3'UTR
1238 .. 1238 G/A rs113042145 + 3'UTR
1244 .. 1244 A/- rs45551538 + 3'UTR
1245 .. 1245 C/G rs115690949 + 3'UTR
1245 .. 1245 C/G rs112619883 + 3'UTR
1245 .. 1245 C/A/G rs1061815 + 3'UTR
1246 .. 1246 C/T rs41540713 + 3'UTR
1247 .. 1247 A/- rs45459503 + 3'UTR
1248 .. 1248 C/T rs115995593 + 3'UTR
1248 .. 1248 C/- rs45463102 + 3'UTR
1249 .. 1249 C/- rs45571234 + 3'UTR
1250 .. 1250 C/- rs45600545 + 3'UTR
1251 .. 1251 C/G rs8437 + 3'UTR
1252 .. 1252 A/- rs45551745 + 3'UTR
1253 .. 1253 C/- rs45531533 + 3'UTR
1254 .. 1254 C/T rs114092443 + 3'UTR
1254 .. 1254 C/- rs45470699 + 3'UTR
1255 .. 1255 C/- rs45593531 + 3'UTR
1256 .. 1256 C/- rs45494192 + 3'UTR
1257 .. 1257 C/G rs116392944 + 3'UTR
1257 .. 1257 C/G rs41545022 + 3'UTR
1258 .. 1258 A/- rs45585341 + 3'UTR
1259 .. 1259 T/- rs45538040 + 3'UTR
1260 .. 1260 G/- rs45486995 + 3'UTR
1261 .. 1261 T/- rs45517735 + 3'UTR
1262 .. 1262 C/- rs45509991 + 3'UTR
1263 .. 1263 C/- rs45504593 + 3'UTR
1264 .. 1264 A/- rs45546931 + 3'UTR
1265 .. 1265 C/- rs45480891 + 3'UTR
1266 .. 1266 C/- rs45612938 + 3'UTR
1267 .. 1267 A/C rs114915278 + 3'UTR
1267 .. 1267 A/- rs45495992 + 3'UTR
1268 .. 1268 T/- rs45559841 + 3'UTR
1269 .. 1269 G/- rs45546134 + 3'UTR
1270 .. 1270 A/- rs45621439 + 3'UTR
1271 .. 1271 C/- rs45512094 + 3'UTR
1272 .. 1272 C/- rs45504102 + 3'UTR
1273 .. 1273 C/- rs45442794 + 3'UTR
1274 .. 1274 T/- rs45585442 + 3'UTR
1275 .. 1275 C/- rs45448192 + 3'UTR
1276 .. 1276 T/- rs45583836 + 3'UTR
1277 .. 1277 T/- rs45496296 + 3'UTR
1278 .. 1278 C/- rs45599737 + 3'UTR
1279 .. 1279 C/- rs45548333 + 3'UTR
1280 .. 1280 C/- rs45438301 + 3'UTR
1281 .. 1281 A/- rs45569638 + 3'UTR
1282 .. 1282 C/- rs45491092 + 3'UTR
1283 .. 1283 G/- rs45527239 + 3'UTR
1284 .. 1284 C/- rs45598331 + 3'UTR
1285 .. 1285 T/- rs45540039 + 3'UTR
1286 .. 1286 G/- rs45442594 + 3'UTR
1287 .. 1287 A/- rs45603140 + 3'UTR
1288 .. 1288 C/- rs45620034 + 3'UTR
1289 .. 1289 C/- rs45450896 + 3'UTR
1290 .. 1290 T/- rs45604838 + 3'UTR
1291 .. 1291 G/- rs45593834 + 3'UTR
1292 .. 1292 T/- rs45628138 + 3'UTR
1293 .. 1293 G/- rs45456500 + 3'UTR
1294 .. 1294 C/- rs45476492 + 3'UTR
1295 .. 1295 T/C rs7829 + 3'UTR
1296 .. 1296 C/- rs45450301 + 3'UTR
1297 .. 1297 C/- rs45493099 + 3'UTR
1298 .. 1298 C/- rs45515092 + 3'UTR
1299 .. 1299 T/- rs45620237 + 3'UTR
1300 .. 1300 C/- rs45454198 + 3'UTR
1301 .. 1301 C/T rs115913151 + 3'UTR
1301 .. 1301 C/T rs112863520 + 3'UTR
1301 .. 1301 C/-/T rs41562318 + 3'UTR
1302 .. 1302 C/- rs45504101 + 3'UTR
1303 .. 1303 C/- rs45605835 + 3'UTR
1304 .. 1304 A/- rs45583936 + 3'UTR
1305 .. 1305 A/- rs45487692 + 3'UTR
1306 .. 1306 T/- rs45558336 + 3'UTR
1307 .. 1307 C/- rs45524937 + 3'UTR
1308 .. 1308 A/- rs45456597 + 3'UTR
1309 .. 1309 T/- rs45623941 + 3'UTR
1310 .. 1310 C/- rs45552544 + 3'UTR
1311 .. 1311 T/- rs45440201 + 3'UTR
1312 .. 1312 T/- rs45559832 + 3'UTR
1313 .. 1313 T/- rs45543934 + 3'UTR
1314 .. 1314 C/G rs11722 - 3'UTR
1315 .. 1315 C/- rs45472098 + 3'UTR
1316 .. 1316 T/- rs45462799 + 3'UTR
1317 .. 1317 G/- rs45593340 + 3'UTR
1318 .. 1318 T/- rs45606136 + 3'UTR
1319 .. 1319 T/- rs45613735 + 3'UTR
1320 .. 1320 C/G rs116212070 + 3'UTR
1320 .. 1320 C/G rs112129747 + 3'UTR
1320 .. 1320 C/-/G rs41561617 + 3'UTR
1320 .. 1320 C/G rs66585529 + 3'UTR
1321 .. 1321 C/- rs45619131 + 3'UTR
1322 .. 1322 A/- rs45626939 + 3'UTR
1323 .. 1323 G/- rs45618539 + 3'UTR
1324 .. 1324 A/- rs45575141 + 3'UTR
1325 .. 1325 G/- rs45507698 + 3'UTR
1326 .. 1326 A/- rs45446996 + 3'UTR
1327 .. 1327 G/- rs45575239 + 3'UTR
1328 .. 1328 G/- rs45626339 + 3'UTR
1329 .. 1329 T/- rs45453596 + 3'UTR
1330 .. 1330 G/- rs45580932 + 3'UTR
1331 .. 1331 G/- rs45536841 + 3'UTR
1332 .. 1332 G/- rs45570937 + 3'UTR
1333 .. 1333 G/- rs45553331 + 3'UTR
1334 .. 1334 C/- rs45539544 + 3'UTR
1335 .. 1335 T/- rs45451208 + 3'UTR
1336 .. 1336 G/- rs45620633 + 3'UTR
1337 .. 1337 A/- rs45530336 + 3'UTR
1338 .. 1338 G/- rs45500200 + 3'UTR
1339 .. 1339 G/A rs115223995 + 3'UTR
1339 .. 1339 G/- rs45577333 + 3'UTR
1340 .. 1340 T/- rs45526233 + 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;