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: HIT000322484 Accession number: X61702 Created date: 26-Mar-2013 Last modified: 20-Apr-2012
Definition: MHC class I antigen;
 
 

Transcript original information
Accession number X61702.1
CAGE tag ID NA
EST ID NA
Clone Number NA
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ;
Sequence data provider NA
Annotation project NA
Length of cDNA 1098[bp] (No. of exon:7)[A:223 T:181 G:365 C:329]
Devision HUM
Molecular type mRNA
Library origin Cell type B-lymphoblastoid (EBV transformed)
Tissue type NA
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 29910331- 29913062
Strand +
Possible duplicated location(s) NA
Gene structure 7 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 NA
KEGG GENES NA
GeneCard NA *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 HIP000036592
Predicted CDS 1..1098;  365[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.83
Database links RefSeq NA
UniProt Q95J07; 
CCDS NA

Motif information
ORF

length(365),orf(1:1098) MAVMAPRTLLLLLSGALALTQTWAGSHSMRYFSTSVSRPGSGEPRFIAVG YVDDTQFVRFDSDAASQRMEPRAPWIEQERPEYWDQETRNVKAHSQTDRE NLGTLRGYYNQSEAGSHTIQIMYGCDVGSDGRFLRGYEQHAYDGKDYIAL NEDLRSWTAADMAAQITQRKWEAARRAEQLRAYLEGTCVEWLRRYLENGK 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 HIT000322484
H-Inv cluster ID Locus viewHIX0005684
Accession number X61702.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition MHC class I antigen;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (Q2LC93)  [Identity/coverage = 98.904%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 19735485;  ALL; 
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 NA
HGNC aliases NA
HGNC name NA
DDBJ NA
UniProt HLA-A
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 HIP000036592
No. of interaction 1
Interaction partner(s) HIP000034203; 
BIND NA
DIP NA
MINT NA
HPRD 02051; 
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 NA
KEGG GENES NA
GeneCard NA *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;  mitochondria;  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 8e-49 81.2 181/181 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 NA
Disease NA
Substance NA
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
6 .. 6 C/G rs113772324 + CDS Synonymous[Ala2Ala]
6 .. 6 C/G rs116720806 + CDS Synonymous[Ala2Ala]
7 .. 7 G/A rs41541013 + CDS Nonsynonymous[Val3Ile]
10 .. 10 A/G rs116404386 + CDS Nonsynonymous[Met4Val]
10 .. 10 A/G rs113468777 + CDS Nonsynonymous[Met4Val]
10 .. 10 A/G rs79326316 + CDS Nonsynonymous[Met4Val]
13 .. 13 G/C rs41541913 + CDS Nonsynonymous[Ala5Pro]
15 .. 15 G/T rs41548614 + CDS Synonymous[Ala5Ala]
28 .. 28 C/G rs77016084 + CDS Nonsynonymous[Leu10Val]
28 .. 28 C/G rs1143146 + CDS Nonsynonymous[Leu10Val]
28 .. 28 C/G rs113259937 + CDS Nonsynonymous[Leu10Val]
28 .. 28 C/G rs114382139 + CDS Nonsynonymous[Leu10Val]
28 .. 28 C/G rs79473346 + CDS Nonsynonymous[Leu10Val]
41 .. 41 C/T rs115527405 + CDS Nonsynonymous[Ser14Leu]
41 .. 41 C/T rs77245357 + CDS Nonsynonymous[Ser14Leu]
41 .. 41 C/T rs2230954 + CDS Nonsynonymous[Ser14Leu]
41 .. 41 C/T rs77233523 + CDS Nonsynonymous[Ser14Leu]
42 .. 42 G/A rs114226207 + CDS Synonymous[Ser14Ser]
46 .. 46 G/- rs41548119 + CDS
47 .. 47 C/T rs41554816 + CDS Nonsynonymous[Ala16Val]
48 .. 48 C/T rs116698226 + CDS Synonymous[Ala16Ala]
48 .. 48 C/T rs111234930 + CDS Synonymous[Ala16Ala]
48 .. 48 C/T rs74524559 + CDS Synonymous[Ala16Ala]
48 .. 48 C/T rs78573734 + CDS Synonymous[Ala16Ala]
48 .. 48 C/T rs41546314 + CDS Synonymous[Ala16Ala]
67 .. 67 T/A rs76828561 + CDS Nonsynonymous[Trp23Arg]
67 .. 67 T/A rs41564012 + CDS Nonsynonymous[Trp23Arg]
72 .. 72 G/A rs115751338 + CDS Synonymous[Ala24Ala]
72 .. 72 G/A rs74466662 + CDS Synonymous[Ala24Ala]
72 .. 72 G/A rs1136656 + CDS Synonymous[Ala24Ala]
73 .. 73 G/C rs114861372 + CDS Nonsynonymous[Gly25Arg]
78 .. 78 C/T rs115811641 + CDS Synonymous[Ser26Ser]
78 .. 78 C/T rs80316590 + CDS Synonymous[Ser26Ser]
78 .. 78 C/T rs74579140 + CDS Synonymous[Ser26Ser]
78 .. 78 C/T rs75043149 + CDS Synonymous[Ser26Ser]
78 .. 78 C/T rs1136657 + CDS Synonymous[Ser26Ser]
81 .. 81 C/A/G rs41541319 + CDS
87 .. 87 G/A rs72555394 + CDS Nonsynonymous[Met29Ile]
88 .. 88 A/G rs75064259 + CDS Nonsynonymous[Arg30Gly]
89 .. 89 G/A rs117205476 + CDS Nonsynonymous[Arg30Lys]
89 .. 89 G/A rs45585732 + CDS Nonsynonymous[Arg30Lys]
90 .. 90 G/C rs41557419 + CDS Nonsynonymous[Arg30Ser]
92 .. 92 A/G rs41542421 + CDS Nonsynonymous[Tyr31Cys]
97 .. 97 T/A rs115330165 + CDS Nonsynonymous[Ser33Thr]
97 .. 97 T/A rs1136659 + CDS Nonsynonymous[Ser33Thr]
97 .. 97 T/A rs75867621 + CDS Nonsynonymous[Ser33Thr]
98 .. 98 C/A/T rs112039894 + CDS
98 .. 98 C/T rs75436713 + CDS Nonsynonymous[Ser33Phe]
98 .. 98 C/T rs76217816 + CDS Nonsynonymous[Ser33Phe]
98 .. 98 C/T rs80321556 + CDS Nonsynonymous[Ser33Phe]
98 .. 98 C/T/A rs2075684 - CDS
101 .. 101 C/T rs41562020 + CDS Nonsynonymous[Thr34Ile]
102 .. 102 A/C rs111938877 + CDS Synonymous[Thr34Thr]
102 .. 102 A/C/G/T rs1059418 + CDS
103 .. 103 T/A/G rs41553516 + CDS
104 .. 104 C/-/A rs41562820 + CDS
105 .. 105 C/- rs41543612 + CDS
106 .. 106 G/A rs41545116 + CDS Nonsynonymous[Val36Met]
108 .. 108 G/C rs41555114 + CDS Synonymous[Val36Val]
112 .. 112 C/T rs114101108 + CDS Nonsynonymous[Arg38Trp]
112 .. 112 C/T rs76382288 + CDS Nonsynonymous[Arg38Trp]
112 .. 112 C/T rs45569434 + CDS Nonsynonymous[Arg38Trp]
113 .. 113 G/C rs41554918 + CDS Nonsynonymous[Arg38Pro]
117 .. 117 C/T rs45617033 + CDS Synonymous[Pro39Pro]
121 .. 121 A/C/T rs1059423 + CDS
123 .. 123 T/C rs1059426 + CDS Synonymous[Ser41Ser]
124 .. 124 G/A/C rs45442596 + CDS
125 .. 125 G/A rs41560112 + CDS Nonsynonymous[Gly42Glu]
126 .. 126 A/G rs12721672 + CDS Synonymous[Gly42Gly]
127 .. 127 G/A rs41549014 + CDS Nonsynonymous[Glu43Lys]
130 .. 130 C/A rs61759956 + CDS Nonsynonymous[Pro44Thr]
131 .. 131 C/T rs45514001 + CDS Nonsynonymous[Pro44Leu]
135 .. 135 C/A rs72555395 + CDS Synonymous[Arg45Arg]
136 .. 136 T/-/A/C/G rs41545314 + CDS
136 .. 136 T/- rs78046262 + CDS
139 .. 139 A/G rs76355537 + CDS Nonsynonymous[Ile47Val]
142 .. 142 G/A rs115782106 + CDS Nonsynonymous[Ala48Thr]
142 .. 142 G/T rs41552219 + CDS Nonsynonymous[Ala48Ser]
143 .. 143 C/T rs11539954 + CDS Nonsynonymous[Ala48Val]
143 .. 143 C/T rs72555396 + CDS Nonsynonymous[Ala48Val]
144 .. 144 A/C rs113699656 + CDS Synonymous[Ala48Ala]
144 .. 144 A/C/G rs12721675 + CDS
144 .. 144 A/C rs74506695 + CDS Synonymous[Ala48Ala]
145 .. 145 G/A rs41544521 + CDS Nonsynonymous[Val49Met]
146 .. 146 T/G rs28628184 + CDS Nonsynonymous[Val49Gly]
147 .. 147 G/C rs72555397 + CDS Synonymous[Val49Val]
158 .. 158 A/G rs76098253 + CDS Nonsynonymous[Asp53Gly]
160 .. 160 G/A/T rs41549215 + CDS
163 .. 163 A/G/T rs1059438 + CDS
164 .. 164 C/A rs45463999 + CDS Nonsynonymous[Thr55Lys]
171 .. 171 C/A rs41548421 + CDS Nonsynonymous[Phe57Leu]
176 .. 176 G/A rs1059441 + CDS Nonsynonymous[Arg59Gln]
179 .. 179 T/G rs41547916 + CDS Nonsynonymous[Phe60Cys]
180 .. 180 C/T rs113559217 + CDS Synonymous[Phe60Phe]
180 .. 180 C/T rs75855780 + CDS Synonymous[Phe60Phe]
180 .. 180 C/G/T rs3173429 + CDS
181 .. 181 G/C rs11539959 + CDS Nonsynonymous[Asp61His]
186 .. 186 C/A/G rs45491502 + CDS
193 .. 193 G/A rs11539961 + CDS Nonsynonymous[Ala65Thr]
194 .. 194 C/G rs41557613 + CDS Nonsynonymous[Ala65Gly]
200 .. 200 A/G rs79993619 + CDS Nonsynonymous[Gln67Arg]
200 .. 200 A/G rs41559117 + CDS Nonsynonymous[Gln67Arg]
200 .. 200 A/G rs115097486 + CDS Nonsynonymous[Gln67Arg]
203 .. 203 G/A rs112117377 + CDS Nonsynonymous[Arg68Lys]
203 .. 203 G/A/C/T rs707910 + CDS
203 .. 203 G/A rs74655243 + CDS Nonsynonymous[Arg68Lys]
211 .. 211 C/T rs41554420 + CDS Nonsynonymous[Pro71Ser]
212 .. 212 C/T rs41563719 + CDS Nonsynonymous[Pro71Leu]
214 .. 214 C/T rs11539957 + CDS Nonsynonymous[Arg72Trp]
215 .. 215 G/C rs41552215 + CDS Nonsynonymous[Arg72Pro]
216 .. 216 G/A rs41562412 + CDS Synonymous[Arg72Arg]
217 .. 217 G/T rs61759957 + CDS Nonsynonymous[Ala73Ser]
218 .. 218 C/A/G rs72555398 + CDS
219 .. 219 G/A rs114843415 + CDS Synonymous[Ala73Ala]
219 .. 219 G/- rs78050357 + CDS
219 .. 219 G/-/A/C/T rs41563513 + CDS
221 .. 221 C/G/T rs41555915 + CDS
224 .. 224 G/A rs41542016 + CDS AA-STOP[Trp75*]
228 .. 228 A/G rs117162979 + CDS Nonsynonymous[Ile76Met]
228 .. 228 A/G rs41544012 + CDS Nonsynonymous[Ile76Met]
228 .. 228 A/G rs79123579 + CDS Nonsynonymous[Ile76Met]
233 .. 233 A/G rs41559716 + CDS Nonsynonymous[Gln78Arg]
235 .. 235 G/A rs41550321 + CDS Nonsynonymous[Glu79Lys]
236 .. 236 A/T rs75991672 + CDS Nonsynonymous[Glu79Val]
238 .. 238 A/G rs111870118 + CDS Nonsynonymous[Arg80Gly]
238 .. 238 A/G rs1059449 + CDS Nonsynonymous[Arg80Gly]
238 .. 238 A/G rs79306805 + CDS Nonsynonymous[Arg80Gly]
239 .. 239 G/A rs1059451 + CDS Nonsynonymous[Arg80Lys]
240 .. 240 G/T rs79810254 + CDS Nonsynonymous[Arg80Ser]
240 .. 240 G/T rs78625613 + CDS Nonsynonymous[Arg80Ser]
240 .. 240 G/T rs112310091 + CDS Nonsynonymous[Arg80Ser]
240 .. 240 G/T rs1059452 + CDS Nonsynonymous[Arg80Ser]
241 .. 241 C/G rs41560913 + CDS Nonsynonymous[Pro81Ala]
242 .. 242 C/T rs41557815 + CDS Nonsynonymous[Pro81Leu]
243 .. 243 T/G rs113341198 + CDS Synonymous[Pro81Pro]
243 .. 243 T/G rs77821016 + CDS Synonymous[Pro81Pro]
243 .. 243 T/A/G rs41541222 + CDS
245 .. 245 A/C rs72555399 + CDS Nonsynonymous[Glu82Ala]
251 .. 251 G/A rs45523732 + CDS AA-STOP[Trp84*]
252 .. 252 G/- rs41547423 + CDS
253 .. 253 G/-/C rs11539963 + CDS
255 .. 255 C/T rs61759958 + CDS Synonymous[Asp85Asp]
256 .. 256 C/G rs116478746 + CDS Nonsynonymous[Gln86Glu]
256 .. 256 C/G rs74452350 + CDS Nonsynonymous[Gln86Glu]
256 .. 256 C/G rs1059455 + CDS Nonsynonymous[Gln86Glu]
257 .. 257 A/G rs74446775 + CDS Nonsynonymous[Gln86Arg]
257 .. 257 A/C/G/T rs1064588 + CDS
257 .. 257 A/T/G rs113505043 - CDS
259 .. 259 G/A rs116248502 + CDS Nonsynonymous[Glu87Lys]
259 .. 259 G/A rs78658036 + CDS Nonsynonymous[Glu87Lys]
259 .. 259 G/A/C rs2230991 + CDS
261 .. 261 G/C rs115282993 + CDS Nonsynonymous[Glu87Asp]
261 .. 261 G/-/A/C rs1059457 + CDS
264 .. 264 A/-/G rs61759959 + CDS
265 .. 265 C/G rs115720613 + CDS Nonsynonymous[Arg89Gly]
265 .. 265 C/G rs1059459 + CDS Nonsynonymous[Arg89Gly]
266 .. 266 G/- rs61760860 + CDS
267 .. 267 G/- rs61760861 + CDS
268 .. 268 A/-/C rs41563014 + CDS
269 .. 269 A/- rs61760862 + CDS
270 .. 270 T/A rs112599652 + CDS Nonsynonymous[Asn90Lys]
270 .. 270 T/A rs76523677 + CDS Nonsynonymous[Asn90Lys]
270 .. 270 T/A/C rs1059460 + CDS
271 .. 271 G/A rs79361534 + CDS Nonsynonymous[Val91Met]
271 .. 271 G/-/A rs41564215 + CDS
271 .. 271 G/A rs112909595 + CDS Nonsynonymous[Val91Met]
272 .. 272 T/- rs61760863 + CDS
273 .. 273 G/-/A rs63739360 + CDS
273 .. 273 G/C rs1059462 + CDS Synonymous[Val91Val]
274 .. 274 A/- rs61760864 + CDS
275 .. 275 A/-/G rs41560515 + CDS
276 .. 276 G/- rs61760865 + CDS
278 .. 278 C/-/G/T rs41553420 + CDS
279 .. 279 C/- rs61760866 + CDS
280 .. 280 C/- rs61760867 + CDS
281 .. 281 A/-/C/G rs45570938 + CDS
282 .. 282 C/G rs72657642 + CDS Nonsynonymous[His94Gln]
282 .. 282 C/G rs78306866 + CDS Nonsynonymous[His94Gln]
282 .. 282 C/G rs78073371 + CDS Nonsynonymous[His94Gln]
282 .. 282 C/G rs1059463 + CDS Nonsynonymous[His94Gln]
283 .. 283 T/G rs1059467 + CDS Nonsynonymous[Ser95Ala]
283 .. 283 T/- rs63682561 + CDS
284 .. 284 C/- rs61760911 + CDS
285 .. 285 A/- rs61760912 + CDS
286 .. 286 C/- rs61760913 + CDS
287 .. 287 A/- rs61760914 + CDS
288 .. 288 G/- rs61760915 + CDS
289 .. 289 A/-/G rs41564216 + CDS
290 .. 290 C/T rs112276836 + CDS Nonsynonymous[Thr97Ile]
290 .. 290 C/G/T rs1059471 + CDS
292 .. 292 G/C rs74979578 + CDS Nonsynonymous[Asp98His]
292 .. 292 G/C rs75646802 + CDS Nonsynonymous[Asp98His]
292 .. 292 G/A/C rs1136683 + CDS
294 .. 294 C/A/T rs41562515 + CDS
295 .. 295 C/A/T rs41542015 + CDS
297 .. 297 A/C/G rs41556115 + CDS
298 .. 298 G/C rs55780271 + CDS Nonsynonymous[Glu100Gln]
299 .. 299 A/C/T rs1071742 + CDS
300 .. 300 G/A rs77174534 + CDS Synonymous[Glu100Glu]
301 .. 301 A/G rs113385995 + CDS Nonsynonymous[Asn101Asp]
301 .. 301 A/G rs1136688 + CDS Nonsynonymous[Asn101Asp]
302 .. 302 A/G rs2231004 + CDS Nonsynonymous[Asn101Ser]
303 .. 303 C/A/T rs41555113 + CDS
307 .. 307 G/C rs1136689 + CDS Nonsynonymous[Gly103Arg]
308 .. 308 G/A/C rs41552317 + CDS
309 .. 309 G/T rs61760916 + CDS Synonymous[Gly103Gly]
311 .. 311 C/T rs114427306 + CDS Nonsynonymous[Thr104Ile]
311 .. 311 C/T rs1136690 + CDS Nonsynonymous[Thr104Ile]
313 .. 313 C/G rs9260138 + CDS Nonsynonymous[Leu105Val]
314 .. 314 T/C rs9260139 + CDS Nonsynonymous[Leu105Pro]
316 .. 316 C/A rs78974056 + CDS Nonsynonymous[Arg106Ser]
317 .. 317 G/A/T rs9260140 + CDS
318 .. 318 C/T rs41555621 + CDS Synonymous[Arg106Arg]
319 .. 319 G/C rs117811937 + CDS Nonsynonymous[Gly107Arg]
319 .. 319 G/C rs1136691 + CDS Nonsynonymous[Gly107Arg]
324 .. 324 C/G rs41562119 + CDS AA-STOP[Tyr108*]
325 .. 325 T/C rs45572937 + CDS Nonsynonymous[Tyr109His]
331 .. 331 C/G rs41541814 + CDS Nonsynonymous[Gln111Glu]
333 .. 333 G/A/C rs41555312 + CDS
337 .. 337 G/A rs41559912 + CDS Nonsynonymous[Glu113Lys]
338 .. 338 A/G rs41556317 + CDS Nonsynonymous[Glu113Gly]
339 .. 339 G/A rs41563617 + CDS Synonymous[Glu113Glu]
340 .. 340 G/C rs41555613 + CDS Nonsynonymous[Ala114Pro]
341 .. 341 C/A rs80246530 + CDS Nonsynonymous[Ala114Asp]
341 .. 341 C/A rs1136692 + CDS Nonsynonymous[Ala114Asp]
342 .. 342 C/G rs41544316 + CDS Synonymous[Ala114Ala]
343 .. 343 G/T rs41543912 + CDS Nonsynonymous[Gly115Cys]
345 .. 345 T/G rs41543220 + CDS Synonymous[Gly115Gly]
346 .. 346 T/A/G rs41543114 + CDS
349 .. 349 C/G rs79493767 + CDS Nonsynonymous[His117Asp]
351 .. 351 C/T rs41556913 + CDS Synonymous[His117His]
355 .. 355 A/C rs111457285 + CDS Nonsynonymous[Ile119Leu]
355 .. 355 A/C/G/T rs1071743 + CDS
357 .. 357 C/-/G/T rs41559619 + CDS
358 .. 358 C/- rs41556912 + CDS
359 .. 359 A/-/T rs41546515 + CDS
360 .. 360 G/- rs41550512 + CDS
361 .. 361 A/-/G/T rs41549813 + CDS
362 .. 362 T/G rs116162943 + CDS Nonsynonymous[Ile121Arg]
362 .. 362 T/-/A/G rs3180267 + CDS
363 .. 363 A/G rs111547432 + CDS Nonsynonymous[Ile121Met]
363 .. 363 A/G rs1136695 + CDS Nonsynonymous[Ile121Met]
363 .. 363 A/G rs74992257 + CDS Nonsynonymous[Ile121Met]
364 .. 364 A/T rs74528514 + CDS Nonsynonymous[Met122Leu]
365 .. 365 T/C rs45533435 + CDS Nonsynonymous[Met122Thr]
367 .. 367 T/A/C rs41551416 + CDS
368 .. 368 A/T rs115442991 + CDS Nonsynonymous[Tyr123Phe]
368 .. 368 A/G/T rs1136697 + CDS
368 .. 368 A/T rs79073194 + CDS Nonsynonymous[Tyr123Phe]
373 .. 373 T/- rs41548122 + CDS
374 .. 374 G/- rs41553315 + CDS
375 .. 375 C/- rs41558319 + CDS
376 .. 376 G/-/A/C/T rs41560216 + CDS
377 .. 377 A/- rs41544815 + CDS
378 .. 378 C/- rs41556114 + CDS
379 .. 379 G/A rs56343262 + CDS Nonsynonymous[Val127Met]
385 .. 385 T/C rs111367452 + CDS Nonsynonymous[Ser129Pro]
385 .. 385 T/C rs1136700 + CDS Nonsynonymous[Ser129Pro]
385 .. 385 T/C rs76230189 + CDS Nonsynonymous[Ser129Pro]
387 .. 387 G/C rs45505094 + CDS Synonymous[Ser129Ser]
391 .. 391 G/T rs111686806 + CDS Nonsynonymous[Gly131Trp]
391 .. 391 G/T rs1136702 + CDS Nonsynonymous[Gly131Trp]
391 .. 391 G/T rs74452443 + CDS Nonsynonymous[Gly131Trp]
392 .. 392 G/A rs41557118 + CDS Nonsynonymous[Gly131Glu]
393 .. 393 G/A rs41561714 + CDS Synonymous[Gly131Gly]
395 .. 395 G/A/C rs41561719 + CDS
396 .. 396 C/A rs41559312 + CDS Synonymous[Arg132Arg]
397 .. 397 T/C rs113712567 + CDS Nonsynonymous[Phe133Leu]
397 .. 397 T/C rs1059488 + CDS Nonsynonymous[Phe133Leu]
399 .. 399 C/A rs41560917 + CDS Nonsynonymous[Phe133Leu]
402 .. 402 C/G rs41563718 + CDS Synonymous[Leu134Leu]
402 .. 402 C/G rs116681107 + CDS Synonymous[Leu134Leu]
403 .. 403 C/T rs41543413 + CDS Nonsynonymous[Arg135Cys]
404 .. 404 G/A rs41548812 + CDS Nonsynonymous[Arg135His]
406 .. 406 G/A rs45542135 + CDS Nonsynonymous[Gly136Arg]
408 .. 408 G/T rs61760917 + CDS Synonymous[Gly136Gly]
409 .. 409 T/C rs45444095 + CDS Nonsynonymous[Tyr137His]
411 .. 411 T/C rs41540615 + CDS Synonymous[Tyr137Tyr]
412 .. 412 G/A/C rs41540315 + CDS
413 .. 413 A/C/G rs3173420 + CDS
413 .. 413 A/G rs76618411 + CDS Nonsynonymous[Glu138Gly]
413 .. 413 A/G rs111464394 + CDS Nonsynonymous[Glu138Gly]
414 .. 414 A/C/G rs12721717 + CDS
416 .. 416 A/G rs41560122 + CDS Nonsynonymous[Gln139Arg]
418 .. 418 C/A/G/T rs3173419 + CDS
419 .. 419 A/C/T rs41557212 + CDS
420 .. 420 C/G/T rs41556016 + CDS
423 .. 423 C/T rs111989682 + CDS Synonymous[Ala141Ala]
423 .. 423 C/T rs3173418 + CDS Synonymous[Ala141Ala]
426 .. 426 C/A rs41553319 + CDS AA-STOP[Tyr142*]
427 .. 427 G/T rs41554014 + CDS Nonsynonymous[Asp143Tyr]
430 .. 430 G/C rs78467407 + CDS Nonsynonymous[Gly144Arg]
430 .. 430 G/T rs11539964 + CDS Nonsynonymous[Gly144Cys]
434 .. 434 A/G rs45468091 + CDS Nonsynonymous[Lys145Arg]
445 .. 445 G/T rs41542119 + CDS Nonsynonymous[Ala149Ser]
448 .. 448 C/T rs1059506 + CDS Synonymous[Leu150Leu]
448 .. 448 C/T rs75544716 + CDS Synonymous[Leu150Leu]
448 .. 448 C/T rs112792387 + CDS Synonymous[Leu150Leu]
450 .. 450 G/A rs41558213 + CDS Synonymous[Leu150Leu]
453 .. 453 C/A rs1059509 + CDS Nonsynonymous[Asn151Lys]
453 .. 453 C/A rs75668521 + CDS Nonsynonymous[Asn151Lys]
453 .. 453 C/A rs76473713 + CDS Nonsynonymous[Asn151Lys]
453 .. 453 C/A rs112130472 + CDS Nonsynonymous[Asn151Lys]
454 .. 454 G/C rs45482492 + CDS Nonsynonymous[Glu152Gln]
455 .. 455 A/T rs41563921 + CDS Nonsynonymous[Glu152Val]
456 .. 456 G/A/C rs41558424 + CDS
457 .. 457 G/C rs75592581 + CDS Nonsynonymous[Asp153His]
463 .. 463 C/A rs41552413 + CDS Nonsynonymous[Arg155Ser]
468 .. 468 T/C rs41551213 + CDS Synonymous[Ser156Ser]
475 .. 475 G/C rs76385482 + CDS Nonsynonymous[Ala159Pro]
476 .. 476 C/T rs80300804 + CDS Nonsynonymous[Ala159Val]
477 .. 477 G/A rs41542714 + CDS Synonymous[Ala159Ala]
479 .. 479 C/T rs78923580 + CDS Nonsynonymous[Ala160Val]
480 .. 480 G/A rs41557413 + CDS Synonymous[Ala160Ala]
482 .. 482 A/C rs115404010 + CDS Nonsynonymous[Asp161Ala]
482 .. 482 A/C rs72555400 + CDS Nonsynonymous[Asp161Ala]
484 .. 484 A/G/T rs45474295 + CDS
485 .. 485 T/A/C/G rs41549316 + CDS
486 .. 486 G/C rs79442106 + CDS Nonsynonymous[Met162Ile]
487 .. 487 G/C rs61760918 + CDS Nonsynonymous[Ala163Pro]
488 .. 488 C/A/T rs41548515 + CDS
489 .. 489 G/A rs115532709 + CDS Synonymous[Ala163Ala]
489 .. 489 G/A rs74615302 + CDS Synonymous[Ala163Ala]
489 .. 489 G/A rs1059514 + CDS Synonymous[Ala163Ala]
493 .. 493 C/G/T rs41541518 + CDS
494 .. 494 A/C/G rs41558916 + CDS
496 .. 496 A/T rs41544016 + CDS Nonsynonymous[Ile166Phe]
497 .. 497 T/C rs111853752 + CDS Nonsynonymous[Ile166Thr]
497 .. 497 T/C rs1059516 + CDS Nonsynonymous[Ile166Thr]
498 .. 498 C/T rs41559615 + CDS Synonymous[Ile166Ile]
502 .. 502 C/A rs113413483 + CDS Nonsynonymous[Gln168Lys]
502 .. 502 C/A/G rs1059517 + CDS
502 .. 502 C/A rs76715483 + CDS Nonsynonymous[Gln168Lys]
502 .. 502 C/A rs75473680 - CDS Nonsynonymous[Gln168Lys]
503 .. 503 A/G rs41540118 + CDS Nonsynonymous[Gln168Arg]
506 .. 506 G/A rs111965878 + CDS Nonsynonymous[Arg169His]
506 .. 506 G/A rs1059520 + CDS Nonsynonymous[Arg169His]
510 .. 510 G/A rs78691935 + CDS Synonymous[Lys170Lys]
517 .. 517 G/A rs113286168 + CDS Nonsynonymous[Ala173Thr]
517 .. 517 G/A rs76426804 + CDS Nonsynonymous[Ala173Thr]
517 .. 517 G/A/T rs1059526 + CDS
518 .. 518 C/T rs41544019 + CDS Nonsynonymous[Ala173Val]
519 .. 519 G/A/C rs41557714 + CDS
521 .. 521 C/T rs113119765 + CDS Nonsynonymous[Ala174Val]
521 .. 521 C/T rs1059535 + CDS Nonsynonymous[Ala174Val]
521 .. 521 C/T rs76507145 + CDS Nonsynonymous[Ala174Val]
523 .. 523 C/A rs41562118 + CDS Nonsynonymous[Arg175Ser]
524 .. 524 G/A rs114929634 + CDS Nonsynonymous[Arg175His]
524 .. 524 G/A/T rs1059536 + CDS
524 .. 524 G/A rs11539956 + CDS Nonsynonymous[Arg175His]
524 .. 524 G/A rs75486381 + CDS Nonsynonymous[Arg175His]
524 .. 524 G/A rs78834059 + CDS Nonsynonymous[Arg175His]
525 .. 525 T/A/C rs41559516 + CDS
526 .. 526 C/G/T rs1059537 + CDS
527 .. 527 G/A/C/T rs9256983 + CDS
530 .. 530 C/-/A/G/T rs41563816 + CDS
531 .. 531 G/A rs41551317 + CDS Synonymous[Ala177Ala]
532 .. 532 G/T rs41564114 + CDS AA-STOP[Glu178*]
535 .. 535 C/T rs77903928 + CDS AA-STOP[Gln179*]
536 .. 536 A/G rs78674188 + CDS Nonsynonymous[Gln179Arg]
538 .. 538 T/C rs116583109 + CDS Synonymous[Leu180Leu]
538 .. 538 T/C rs9260155 + CDS Synonymous[Leu180Leu]
538 .. 538 T/C rs78034433 + CDS Synonymous[Leu180Leu]
539 .. 539 T/A/G rs111578681 + CDS
539 .. 539 T/A/G rs9260156 + CDS
539 .. 539 T/G rs79798406 + CDS Nonsynonymous[Leu180Trp]
539 .. 539 T/G rs76901040 + CDS Nonsynonymous[Leu180Trp]
542 .. 542 G/A/C rs41551921 + CDS
543 .. 543 A/G rs45495505 + CDS Synonymous[Arg181Arg]
544 .. 544 G/C rs41540012 + CDS Nonsynonymous[Ala182Pro]
545 .. 545 C/T rs111509830 + CDS Nonsynonymous[Ala182Val]
545 .. 545 C/T rs9260157 + CDS Nonsynonymous[Ala182Val]
545 .. 545 C/T rs79496020 + CDS Nonsynonymous[Ala182Val]
545 .. 545 C/T rs1059539 + CDS Nonsynonymous[Ala182Val]
550 .. 550 C/T rs72555401 + CDS Synonymous[Leu184Leu]
553 .. 553 G/C/T rs41541015 + CDS
555 .. 555 G/T rs113679013 + CDS Nonsynonymous[Glu185Asp]
555 .. 555 G/T rs76087925 + CDS Nonsynonymous[Glu185Asp]
555 .. 555 G/T rs78969666 + CDS Nonsynonymous[Glu185Asp]
555 .. 555 G/T rs75520084 + CDS Nonsynonymous[Glu185Asp]
555 .. 555 G/T rs1059542 + CDS Nonsynonymous[Glu185Asp]
557 .. 557 G/C rs41545519 + CDS Nonsynonymous[Gly186Ala]
558 .. 558 C/- rs41545516 + CDS
559 .. 559 A/C rs79069981 + CDS Nonsynonymous[Thr187Pro]
559 .. 559 A/T/G/C rs3129018 - CDS
560 .. 560 C/G rs79374907 + CDS Nonsynonymous[Thr187Arg]
560 .. 560 C/T/G/A rs3129017 - CDS
561 .. 561 G/C rs41547914 + CDS Synonymous[Thr187Thr]
563 .. 563 G/C/T rs41552712 + CDS
564 .. 564 C/A rs41558913 + CDS AA-STOP[Cys188*]
565 .. 565 G/A/C/T rs41562120 + CDS
566 .. 566 T/C rs61760919 + CDS Nonsynonymous[Val189Ala]
569 .. 569 A/T rs41560823 + CDS Nonsynonymous[Glu190Val]
570 .. 570 G/C rs74544126 + CDS Nonsynonymous[Glu190Asp]
570 .. 570 G/C rs3129016 - CDS Nonsynonymous[Glu190Asp]
570 .. 570 G/C rs74914698 + CDS Nonsynonymous[Glu190Asp]
571 .. 571 T/A/C/G rs3098019 + CDS
571 .. 571 T/G rs78878174 + CDS Nonsynonymous[Trp191Gly]
571 .. 571 T/G rs76185201 + CDS Nonsynonymous[Trp191Gly]
575 .. 575 T/G rs45572432 + CDS Nonsynonymous[Leu192Arg]
576 .. 576 C/T rs61760920 + CDS Synonymous[Leu192Leu]
582 .. 582 A/C rs45564240 + CDS Nonsynonymous[Arg194Ser]
583 .. 583 T/C rs41563116 + CDS Nonsynonymous[Tyr195His]
586 .. 586 C/G rs41557122 + CDS Nonsynonymous[Leu196Val]
587 .. 587 T/A/G rs45552635 + CDS
589 .. 589 G/A rs41548412 + CDS Nonsynonymous[Glu197Lys]
595 .. 595 G/A/C rs41559916 + CDS
597 .. 597 G/T rs41551117 + CDS Synonymous[Gly199Gly]
601 .. 601 G/A rs41546018 + CDS Nonsynonymous[Glu201Lys]
602 .. 602 A/T rs70944746 + CDS Nonsynonymous[Glu201Val]
605 .. 605 C/T rs9391665 + CDS Nonsynonymous[Thr202Met]
614 .. 614 G/- rs77614923 + CDS
614 .. 614 G/A rs17185861 + CDS Nonsynonymous[Arg205His]
616 .. 616 A/G rs117156320 + CDS Nonsynonymous[Thr206Ala]
616 .. 616 A/G rs41557913 + CDS Nonsynonymous[Thr206Ala]
618 .. 618 G/T rs115073453 + CDS Synonymous[Thr206Thr]
618 .. 618 G/C/T rs41554520 + CDS
619 .. 619 G/A rs62687162 + CDS Nonsynonymous[Asp207Asn]
621 .. 621 C/T rs41544717 + CDS Synonymous[Asp207Asp]
622 .. 622 C/G rs115325458 + CDS Nonsynonymous[Pro208Ala]
622 .. 622 C/G rs1136741 + CDS Nonsynonymous[Pro208Ala]
627 .. 627 C/- rs75368153 + CDS
629 .. 629 A/G rs41557315 + CDS Nonsynonymous[Lys210Arg]
630 .. 630 G/A rs1136746 + CDS Synonymous[Lys210Lys]
633 .. 633 A/G rs1136749 + CDS Synonymous[Thr211Thr]
634 .. 634 C/G rs61760921 + CDS Nonsynonymous[His212Asp]
642 .. 642 C/T rs2231075 + CDS Synonymous[Thr214Thr]
642 .. 642 C/T rs1136754 + CDS Synonymous[Thr214Thr]
645 .. 645 C/T rs45520243 + CDS Synonymous[His215His]
646 .. 646 C/T rs77235917 + CDS Nonsynonymous[His216Tyr]
648 .. 648 C/A/T rs41554113 + CDS
649 .. 649 C/G rs1059563 + CDS Nonsynonymous[Pro217Ala]
650 .. 650 C/G/T rs45562634 + CDS
651 .. 651 C/T rs1059564 + CDS Synonymous[Pro217Pro]
652 .. 652 A/G rs9260179 + CDS Nonsynonymous[Ile218Val]
666 .. 666 G/A rs12721753 + CDS Synonymous[Glu222Glu]
672 .. 672 C/T rs74658171 + CDS Synonymous[Thr224Thr]
672 .. 672 C/T rs76648830 + CDS Synonymous[Thr224Thr]
672 .. 672 C/T rs1059570 + CDS Synonymous[Thr224Thr]
678 .. 678 G/A rs77380700 + CDS Synonymous[Arg226Arg]
678 .. 678 G/A rs12721755 + CDS Synonymous[Arg226Arg]
691 .. 691 G/A rs9260180 + CDS Nonsynonymous[Gly231Ser]
692 .. 692 G/A rs41559423 + CDS Nonsynonymous[Gly231Asp]
699 .. 699 C/A rs61760922 + CDS AA-STOP[Tyr233*]
705 .. 705 G/A rs41562919 + CDS Synonymous[Ala235Ala]
708 .. 708 G/A rs56124255 + CDS Synonymous[Glu236Glu]
715 .. 715 C/T rs41543116 + CDS Synonymous[Leu239Leu]
727 .. 727 C/T rs72558105 + CDS Nonsynonymous[Arg243Trp]
728 .. 728 G/A rs41553815 + CDS Nonsynonymous[Arg243Gln]
742 .. 742 C/T rs41556217 + CDS AA-STOP[Gln248*]
746 .. 746 C/T rs41551612 + CDS Nonsynonymous[Thr249Ile]
750 .. 750 G/- rs66729206 + CDS
750 .. 750 G/- rs60304108 + CDS
750 .. 750 G/- rs113337937 + CDS
750 .. 750 G/C rs45469394 + CDS Nonsynonymous[Gln250His]
751 .. 751 G/C rs59581768 + CDS Nonsynonymous[Asp251His]
751 .. 751 G/- rs45576436 + CDS
755 .. 755 C/T rs61760923 + CDS Nonsynonymous[Thr252Met]
756 .. 756 G/A rs41563538 + CDS Synonymous[Thr252Thr]
762 .. 762 C/T rs76592207 + CDS Synonymous[Leu254Leu]
762 .. 762 C/T rs111860546 + CDS Synonymous[Leu254Leu]
762 .. 762 C/T rs9260181 + CDS Synonymous[Leu254Leu]
763 .. 763 G/A rs74996856 + CDS Nonsynonymous[Val255Met]
763 .. 763 G/A rs80073174 + CDS Nonsynonymous[Val255Met]
763 .. 763 G/A rs60318678 + CDS Nonsynonymous[Val255Met]
765 .. 765 G/T rs41561918 + CDS Synonymous[Val255Val]
768 .. 768 G/C rs41563419 + CDS Nonsynonymous[Glu256Asp]
776 .. 776 C/T rs41550416 + CDS Nonsynonymous[Pro259Leu]
779 .. 779 C/A rs41540417 + CDS Nonsynonymous[Ala260Glu]
780 .. 780 A/- rs79919235 + CDS
780 .. 780 A/-/C rs41563812 + CDS
789 .. 789 A/G rs1059617 + CDS Synonymous[Gly263Gly]
789 .. 789 A/G rs80017379 + CDS Synonymous[Gly263Gly]
789 .. 789 A/G rs9260182 + CDS Synonymous[Gly263Gly]
791 .. 791 C/A rs41548917 + CDS Nonsynonymous[Thr264Asn]
801 .. 801 G/C rs61760924 + CDS Nonsynonymous[Lys267Asn]
806 .. 806 C/T rs41562917 + CDS Nonsynonymous[Ala269Val]
807 .. 807 G/A rs2231092 + CDS Synonymous[Ala269Ala]
807 .. 807 G/A/C rs12721762 + CDS
808 .. 808 G/T rs2231093 + CDS Nonsynonymous[Ala270Ser]
808 .. 808 G/A/T rs1059632 + CDS
811 .. 811 G/A rs77614270 + CDS Nonsynonymous[Val271Met]
819 .. 819 G/A rs78673345 + CDS Synonymous[Val273Val]
819 .. 819 G/A rs1059638 + CDS Synonymous[Val273Val]
819 .. 819 G/A rs41548715 + CDS Synonymous[Val273Val]
829 .. 829 G/C rs75766454 + CDS Nonsynonymous[Glu277Gln]
829 .. 829 G/A/C/T rs2231095 + CDS
835 .. 835 C/A rs1059644 + CDS Nonsynonymous[Gln279Lys]
843 .. 843 C/A rs41555316 + CDS AA-STOP[Tyr281*]
845 .. 845 C/A rs76388977 + CDS Nonsynonymous[Thr282Asn]
853 .. 853 G/A rs56236193 + CDS Nonsynonymous[Val285Met]
858 .. 858 G/T rs11539960 + CDS Nonsynonymous[Gln286His]
866 .. 866 G/A/T rs55678004 + CDS
868 .. 868 C/T rs116447243 + CDS Synonymous[Leu290Leu]
868 .. 868 C/T rs78896137 + CDS Synonymous[Leu290Leu]
868 .. 868 C/T rs1059686 + CDS Synonymous[Leu290Leu]
870 .. 870 G/C rs114818671 + CDS Synonymous[Leu290Leu]
870 .. 870 G/C rs3179236 + CDS Synonymous[Leu290Leu]
870 .. 870 G/C rs1136832 + CDS Synonymous[Leu290Leu]
874 .. 874 A/G rs1136835 + CDS Nonsynonymous[Lys292Glu]
884 .. 884 C/T rs61760925 + CDS Nonsynonymous[Thr295Ile]
890 .. 890 G/C rs41545513 + CDS Nonsynonymous[Arg297Thr]
890 .. 890 G/A rs78135374 + CDS Nonsynonymous[Arg297Lys]
890 .. 890 G/A rs111791728 - CDS Nonsynonymous[Arg297Lys]
899 .. 899 T/C rs116537579 + CDS Nonsynonymous[Leu300Pro]
899 .. 899 T/C rs1136903 + CDS Nonsynonymous[Leu300Pro]
899 .. 899 T/C rs77430870 + CDS Nonsynonymous[Leu300Pro]
899 .. 900 TG/CA rs35946537 - CDS
900 .. 900 G/A rs116678179 + CDS Synonymous[Leu300Leu]
900 .. 900 G/A rs1136917 + CDS Synonymous[Leu300Leu]
900 .. 900 G/A rs78418304 + CDS Synonymous[Leu300Leu]
916 .. 916 A/G rs114694793 + CDS Nonsynonymous[Ile306Val]
916 .. 916 A/G rs1136949 + CDS Nonsynonymous[Ile306Val]
916 .. 916 A/G rs79259093 + CDS Nonsynonymous[Ile306Val]
920 .. 920 C/A rs115629042 + CDS Nonsynonymous[Pro307His]
920 .. 920 C/A rs41558618 + CDS Nonsynonymous[Pro307His]
920 .. 920 C/A rs75326938 + CDS Nonsynonymous[Pro307His]
921 .. 921 C/- rs45483999 + CDS
922 .. 922 A/- rs45528238 + CDS
923 .. 923 T/- rs45498192 + CDS
924 .. 924 C/T rs41555922 + CDS Synonymous[Ile308Ile]
925 .. 925 G/- rs45542447 + CDS
926 .. 926 T/- rs45459392 + CDS
927 .. 927 G/- rs45560239 + CDS
928 .. 928 G/- rs45599732 + CDS
929 .. 929 G/- rs45594832 + CDS
930 .. 930 C/- rs45595138 + CDS
931 .. 931 A/- rs45595537 + CDS
932 .. 932 T/- rs45626140 + CDS
933 .. 933 C/- rs45620136 + CDS
934 .. 934 A/C rs114576045 + CDS Nonsynonymous[Ile312Leu]
934 .. 934 A/C rs41554316 + CDS Nonsynonymous[Ile312Leu]
934 .. 934 A/C rs79552292 - CDS Nonsynonymous[Ile312Leu]
935 .. 935 T/- rs45547531 + CDS
936 .. 936 T/- rs45594138 + CDS
937 .. 937 G/- rs45623735 + CDS
938 .. 938 C/- rs45540136 + CDS
939 .. 939 T/- rs45465701 + CDS
940 .. 940 G/- rs45597331 + CDS
941 .. 941 G/- rs45520735 + CDS
942 .. 942 C/- rs45451595 + CDS
943 .. 943 C/- rs45600843 + CDS
944 .. 944 T/- rs45452399 + CDS
945 .. 945 G/A rs1059846 + CDS Synonymous[Leu315Leu]
946 .. 946 G/- rs45621936 + CDS
947 .. 947 T/- rs45565034 + CDS
948 .. 948 T/- rs45624132 + CDS
949 .. 949 C/- rs45495803 + CDS
950 .. 950 T/- rs45481493 + CDS
951 .. 951 C/- rs45451606 + CDS
952 .. 952 C/T rs115662401 + CDS Nonsynonymous[Leu318Phe]
952 .. 952 C/T rs79377647 + CDS Nonsynonymous[Leu318Phe]
952 .. 952 C/T rs3179982 + CDS Nonsynonymous[Leu318Phe]
953 .. 953 T/- rs45532837 + CDS
954 .. 954 T/- rs45536333 + CDS
955 .. 955 G/- rs45608135 + CDS
956 .. 956 G/C rs41550912 + CDS Nonsynonymous[Gly319Ala]
957 .. 957 A/- rs45492195 + CDS
958 .. 958 G/- rs45512104 + CDS
959 .. 959 C/- rs45521042 + CDS
960 .. 960 T/- rs45476592 + CDS
961 .. 961 G/A rs1059896 + CDS Nonsynonymous[Val321Met]
962 .. 962 T/- rs45558935 + CDS
963 .. 963 G/- rs45513603 + CDS
963 .. 963 G/C rs11539965 + CDS Synonymous[Val321Val]
964 .. 964 A/T rs116025560 + CDS Nonsynonymous[Ile322Phe]
964 .. 964 A/T rs3180278 + CDS Nonsynonymous[Ile322Phe]
965 .. 965 T/- rs45480495 + CDS
966 .. 966 C/- rs45488104 + CDS
967 .. 967 A/G rs115270926 + CDS Nonsynonymous[Thr323Ala]
967 .. 967 A/G rs1137078 + CDS Nonsynonymous[Thr323Ala]
967 .. 967 A/G rs74413311 + CDS Nonsynonymous[Thr323Ala]
968 .. 968 C/- rs45624440 + CDS
969 .. 969 T/- rs45480791 + CDS
970 .. 970 G/- rs45532831 + CDS
971 .. 971 G/- rs45461999 + CDS
972 .. 972 A/- rs45547039 + CDS
973 .. 973 G/- rs45575634 + CDS
974 .. 974 C/- rs45614333 + CDS
975 .. 975 T/- rs45444399 + CDS
976 .. 976 G/- rs45488301 + CDS
977 .. 977 T/- rs45571534 + CDS
978 .. 978 G/- rs45584337 + CDS
979 .. 979 G/- rs45500995 + CDS
980 .. 980 T/- rs45549133 + CDS
981 .. 981 C/- rs45522832 + CDS
982 .. 982 G/- rs45491793 + CDS
983 .. 983 C/- rs45445096 + CDS
984 .. 984 T/- rs45610532 + CDS
985 .. 985 G/- rs45516693 + CDS
986 .. 986 C/- rs45475499 + CDS
987 .. 987 C/T rs115045745 + CDS Synonymous[Ala329Ala]
987 .. 987 C/T rs77107686 + CDS Synonymous[Ala329Ala]
987 .. 987 C/T rs1141891 + CDS Synonymous[Ala329Ala]
988 .. 988 G/- rs45521737 + CDS
989 .. 989 T/- rs45518237 + CDS
990 .. 990 G/- rs45460095 + CDS
991 .. 991 A/- rs45571438 + CDS
992 .. 992 T/G rs2231114 + CDS Nonsynonymous[Met331Arg]
992 .. 992 T/G rs1137110 + CDS Nonsynonymous[Met331Arg]
993 .. 993 G/- rs45496498 + CDS
994 .. 994 T/- rs45569533 + CDS
995 .. 995 G/- rs45471796 + CDS
996 .. 996 G/- rs45523937 + CDS
997 .. 997 A/- rs45577032 + CDS
998 .. 998 G/- rs45526834 + CDS
998 .. 998 G/A rs116046290 + CDS Nonsynonymous[Arg333Lys]
999 .. 999 G/- rs45450491 + CDS
1000 .. 1000 A/- rs45525639 + CDS
1001 .. 1001 G/A rs41550119 + CDS Nonsynonymous[Arg334Lys]
1002 .. 1002 G/- rs45608736 + CDS
1003 .. 1003 A/- rs45467691 + CDS
1004 .. 1004 A/- rs45578137 + CDS
1005 .. 1005 G/C rs114680252 + CDS Nonsynonymous[Lys335Asn]
1005 .. 1005 G/C rs1137160 + CDS Nonsynonymous[Lys335Asn]
1006 .. 1006 A/- rs45444302 + CDS
1007 .. 1007 G/- rs45556533 + CDS
1008 .. 1008 C/- rs45562733 + CDS
1009 .. 1009 T/- rs45508194 + CDS
1010 .. 1010 C/- rs45610342 + CDS
1011 .. 1011 A/- rs45606641 + CDS
1012 .. 1012 G/-/C rs45480201 + CDS
1013 .. 1013 A/T rs41551512 + CDS Nonsynonymous[Asp338Val]
1013 .. 1013 A/T rs75118792 + CDS Nonsynonymous[Asp338Val]
1029 .. 1029 T/C rs112145970 + CDS Synonymous[Ser343Ser]
1029 .. 1029 T/C rs1137296 + CDS Synonymous[Ser343Ser]
1029 .. 1029 T/C rs75562132 - CDS Synonymous[Ser343Ser]
1033 .. 1033 A/T rs112256355 + CDS Nonsynonymous[Thr345Ser]
1033 .. 1033 A/T rs2231119 + CDS Nonsynonymous[Thr345Ser]
1033 .. 1033 A/T rs76774052 + CDS Nonsynonymous[Thr345Ser]
1072 .. 1072 G/A rs112893685 + CDS Nonsynonymous[Val358Met]
1072 .. 1072 G/A rs76411947 + CDS Nonsynonymous[Val358Met]
1072 .. 1072 G/A rs1137631 + CDS Nonsynonymous[Val358Met]
1077 .. 1077 T/C rs112763429 + CDS Synonymous[Ser359Ser]
1077 .. 1077 T/C rs2231121 + CDS Synonymous[Ser359Ser]
1077 .. 1077 T/C rs14288 - CDS Synonymous[Ser359Ser]
1077 .. 1077 T/C rs76103396 + CDS Synonymous[Ser359Ser]
1086 .. 1086 T/C rs11539951 - CDS Synonymous[Ala362Ala]
 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;