Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
34
..
34
|
G/A |
rs199958570
|
+ |
5'UTR |
|
134
..
134
|
C/T |
rs11559190
|
+ |
CDS |
Synonymous[His30His] |
224
..
224
|
C/T |
rs11559189
|
+ |
CDS |
Synonymous[Ser60Ser] |
263
..
263
|
C/T |
rs138161374
|
+ |
CDS |
Synonymous[Cys73Cys] |
339
..
339
|
C/T |
rs201425657
|
+ |
CDS |
Synonymous[Leu99Leu] |
364
..
364
|
C/T |
rs149537532
|
+ |
CDS |
Nonsynonymous[Thr107Ile] |
380
..
380
|
C/G |
rs2305791
|
+ |
CDS |
Synonymous[Val112Val] |
392
..
392
|
G/A |
rs145434458
|
+ |
CDS |
Synonymous[Ser116Ser] |
400
..
400
|
G/A |
rs200262990
|
+ |
CDS |
Nonsynonymous[Arg119His] |
436
..
436
|
A/C |
rs11559191
|
+ |
CDS |
Nonsynonymous[His131Pro] |
478
..
478
|
G/C |
rs148251125
|
+ |
CDS |
Nonsynonymous[Ser145Thr] |
490
..
490
|
A/G |
rs141885183
|
+ |
CDS |
Nonsynonymous[His149Arg] |
491
..
491
|
T/C |
rs147280427
|
+ |
CDS |
Synonymous[His149His] |
539
..
539
|
C/T |
rs201598972
|
+ |
CDS |
Synonymous[Pro165Pro] |
547
..
547
|
A/G |
rs145377510
|
+ |
CDS |
Nonsynonymous[Asn168Ser] |
593
..
593
|
C/T |
rs144662486
|
+ |
CDS |
Synonymous[Ile183Ile] |
602
..
602
|
C/T |
rs147459098
|
+ |
CDS |
Synonymous[Asn186Asn] |
603
..
603
|
C/G |
rs200707716
|
+ |
CDS |
Nonsynonymous[Pro187Ala] |
605
..
605
|
C/T |
rs139384586
|
+ |
CDS |
Synonymous[Pro187Pro] |
610
..
610
|
C/T |
rs150066913
|
+ |
CDS |
Nonsynonymous[Ser189Phe] |
619
..
619
|
T/G |
rs75092341
|
+ |
CDS |
Nonsynonymous[Leu192Arg] |
620
..
620
|
G/A |
rs145308601
|
+ |
CDS |
Synonymous[Leu192Leu] |
628
..
628
|
G/A |
rs201678394
|
+ |
CDS |
Nonsynonymous[Arg195His] |
660
..
660
|
G/A |
rs149200523
|
+ |
CDS |
Nonsynonymous[Ala206Thr] |
662
..
662
|
G/A |
rs143244427
|
+ |
CDS |
Synonymous[Ala206Ala] |
666
..
666
|
C/T |
rs146709614
|
+ |
CDS |
Nonsynonymous[Arg208Cys] |
668
..
668
|
C/T |
rs140229341
|
+ |
CDS |
Synonymous[Arg208Arg] |
742
..
742
|
C/T |
rs145193009
|
+ |
CDS |
Nonsynonymous[Thr233Met] |
770
..
770
|
A/C |
rs147987313
|
+ |
CDS |
Synonymous[Ala242Ala] |
854
..
854
|
G/A |
rs115304803
|
+ |
CDS |
Synonymous[Val270Val] |
882
..
882
|
A/G |
rs143785583
|
+ |
CDS |
Nonsynonymous[Thr280Ala] |
885
..
885
|
C/G |
rs138578033
|
+ |
CDS |
Nonsynonymous[Leu281Val] |
887
..
887
|
G/T |
rs149310564
|
+ |
CDS |
Synonymous[Leu281Leu] |
897
..
897
|
A/G |
rs147270714
|
+ |
CDS |
Nonsynonymous[Lys285Glu] |
978
..
978
|
C/G |
rs201708953
|
+ |
CDS |
Nonsynonymous[Leu312Val] |
985
..
985
|
C/T |
rs150642937
|
+ |
CDS |
Nonsynonymous[Ala314Val] |
1002
..
1002
|
C/T |
rs139102139
|
+ |
CDS |
Nonsynonymous[Arg320Trp] |
1003
..
1003
|
G/A |
rs78029270
|
+ |
CDS |
Nonsynonymous[Arg320Gln] |
1012
..
1012
|
C/T |
rs139737427
|
+ |
CDS |
Nonsynonymous[Ala323Val] |
1018
..
1018
|
G/A |
rs147449267
|
+ |
CDS |
Nonsynonymous[Arg325Lys] |
1028
..
1028
|
G/T |
rs148511579
|
+ |
CDS |
Nonsynonymous[Gln328His] |
1046
..
1046
|
G/A |
rs201894415
|
+ |
CDS |
Synonymous[Gln334Gln] |
1048
..
1048
|
G/A |
rs201240380
|
+ |
CDS |
Nonsynonymous[Arg335His] |
1062
..
1062
|
C/T |
rs199800140
|
+ |
CDS |
Nonsynonymous[Arg340Trp] |
1108
..
1108
|
G/A |
rs142965918
|
+ |
CDS |
Nonsynonymous[Arg355Gln] |
1113
..
1113
|
G/A |
rs150699750
|
+ |
CDS |
Nonsynonymous[Gly357Arg] |
1117
..
1117
|
G/T |
rs2305793
|
+ |
CDS |
Nonsynonymous[Gly358Val] |
1138
..
1138
|
G/A |
rs139878079
|
+ |
CDS |
Nonsynonymous[Gly365Glu] |
1157
..
1157
|
G/A |
rs201441934
|
+ |
CDS |
Synonymous[Ala371Ala] |
1159
..
1159
|
G/T |
rs143841517
|
+ |
CDS |
Nonsynonymous[Ser372Ile] |
1169
..
1169
|
A/G |
rs17850562
|
+ |
CDS |
Synonymous[Leu375Leu] |
1197
..
1197
|
G/T |
rs146850220
|
+ |
CDS |
Nonsynonymous[Asp385Tyr] |
1203
..
1203
|
A/G |
rs199787700
|
+ |
CDS |
Nonsynonymous[Ile387Val] |
1215
..
1215
|
T/C |
rs200353844
|
+ |
CDS |
Nonsynonymous[Cys391Arg] |
1257
..
1257
|
G/A/C |
rs144050883
|
+ |
CDS |
|
1266
..
1266
|
C/G |
rs144885423
|
+ |
CDS |
Nonsynonymous[Gln408Glu] |
1267
..
1267
|
A/G |
rs11559188
|
- |
CDS |
Nonsynonymous[Gln408Arg] |
1272
..
1272
|
C/T |
rs201114729
|
+ |
CDS |
Nonsynonymous[Arg410Trp] |
1273
..
1273
|
G/A |
rs143184464
|
+ |
CDS |
Nonsynonymous[Arg410Gln] |
1293
..
1293
|
C/T |
rs149830208
|
+ |
CDS |
Nonsynonymous[Arg417Trp] |
1294
..
1294
|
G/A |
rs74406884
|
+ |
CDS |
Nonsynonymous[Arg417Gln] |
1300
..
1300
|
G/A |
rs200572062
|
+ |
CDS |
Nonsynonymous[Arg419Gln] |
1306
..
1306
|
G/A |
rs200813035
|
+ |
CDS |
Nonsynonymous[Arg421Gln] |
1320
..
1320
|
C/T |
rs141451987
|
+ |
CDS |
AA-STOP[Arg426*] |
1332
..
1332
|
C/G |
rs116781814
|
+ |
CDS |
Nonsynonymous[Arg430Gly] |
1377
..
1377
|
G/A |
rs202188732
|
+ |
CDS |
Nonsynonymous[Gly445Arg] |
1388
..
1388
|
C/G |
rs138132164
|
+ |
CDS |
Synonymous[Ala448Ala] |
1392
..
1392
|
C/T |
rs143071462
|
+ |
CDS |
Nonsynonymous[Arg450Trp] |
1393
..
1393
|
G/A |
rs201530848
|
+ |
CDS |
Nonsynonymous[Arg450Gln] |
1406
..
1406
|
G/A |
rs201555567
|
+ |
CDS |
Synonymous[Gly454Gly] |
1429
..
1429
|
G/T |
rs200927331
|
+ |
CDS |
Nonsynonymous[Gly462Val] |
1433
..
1433
|
G/A |
rs189917838
|
+ |
CDS |
Synonymous[Arg463Arg] |
1438
..
1438
|
G/A |
rs202051962
|
+ |
CDS |
Nonsynonymous[Arg465Gln] |
1444
..
1444
|
G/A |
rs200307919
|
+ |
CDS |
Nonsynonymous[Arg467His] |
1475
..
1475
|
C/T |
rs139777843
|
+ |
3'UTR |
|
1477
..
1477
|
C/T |
rs182555350
|
+ |
3'UTR |
|
1480
..
1480
|
C/T |
rs117177141
|
+ |
3'UTR |
|
1501
..
1501
|
C/T |
rs117444454
|
+ |
3'UTR |
|
1530
..
1530
|
C/T |
rs114727628
|
+ |
3'UTR |
|
1532
..
1532
|
C/T |
rs144495354
|
+ |
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
|
No data available |
|