Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
137
..
137
|
G/T |
rs181771323
|
- |
5'UTR |
|
171
..
171
|
T/C |
rs4784815
|
- |
5'UTR |
|
309
..
309
|
G/A |
rs79928291
|
- |
CDS |
Synonymous[Pro39Pro] |
443
..
443
|
G/A |
rs202154704
|
- |
CDS |
Nonsynonymous[Arg84Gln] |
477
..
477
|
C/T |
rs17845157
|
- |
CDS |
Synonymous[Arg95Arg] |
478
..
478
|
T/C |
rs12935069
|
- |
CDS |
Nonsynonymous[Trp96Arg] |
610
..
610
|
C/A |
rs192319254
|
- |
CDS |
Synonymous[Arg140Arg] |
619
..
619
|
C/T |
rs112087576
|
- |
CDS |
Nonsynonymous[Arg143Cys] |
741
..
741
|
G/A |
rs146791662
|
- |
CDS |
Synonymous[Val183Val] |
870
..
870
|
G/A |
rs112012472
|
- |
CDS |
Synonymous[Arg226Arg] |
876
..
876
|
C/T |
rs185726595
|
- |
CDS |
Synonymous[Ser228Ser] |
884
..
884
|
G/T |
rs140486249
|
- |
CDS |
Nonsynonymous[Arg231Leu] |
891
..
891
|
G/T |
rs146826598
|
- |
CDS |
Nonsynonymous[Glu233Asp] |
892
..
892
|
C/G |
rs145049485
|
- |
CDS |
Nonsynonymous[Arg234Gly] |
893
..
893
|
G/C/A |
rs141272360
|
- |
CDS |
|
899
..
899
|
G/A |
rs151092408
|
- |
CDS |
Nonsynonymous[Arg236Gln] |
930
..
930
|
G/A |
rs142906295
|
- |
CDS |
Synonymous[Glu246Glu] |
964
..
964
|
C/T |
rs138430955
|
- |
CDS |
Nonsynonymous[Arg258Trp] |
971
..
971
|
A/G |
rs79054675
|
- |
CDS |
Nonsynonymous[Asp260Gly] |
977
..
977
|
C/A |
rs145855529
|
- |
CDS |
Nonsynonymous[Ser262Tyr] |
1017
..
1017
|
G/A |
rs28446687
|
- |
CDS |
Synonymous[Ala275Ala] |
1024
..
1024
|
A/G |
rs140290061
|
- |
CDS |
Nonsynonymous[Arg278Gly] |
1026
..
1026
|
G/A |
rs201630960
|
- |
CDS |
Synonymous[Arg278Arg] |
1068
..
1068
|
C/T |
rs147179404
|
- |
CDS |
Synonymous[Ile292Ile] |
1099
..
1099
|
G/A |
rs143525658
|
- |
CDS |
Nonsynonymous[Glu303Lys] |
1133
..
1133
|
C/T |
rs61754870
|
- |
CDS |
Nonsynonymous[Ala314Val] |
1134
..
1134
|
G/A |
rs150775326
|
- |
CDS |
Synonymous[Ala314Ala] |
1143
..
1143
|
C/T |
rs141241860
|
- |
CDS |
Synonymous[Asp317Asp] |
1209
..
1209
|
A/G |
rs199604828
|
- |
CDS |
Synonymous[Lys339Lys] |
1221
..
1221
|
G/A |
rs148280040
|
- |
CDS |
Synonymous[Leu343Leu] |
1227
..
1227
|
C/T |
rs200601259
|
- |
CDS |
Synonymous[Gly345Gly] |
1255
..
1255
|
G/A |
rs144125982
|
- |
CDS |
Nonsynonymous[Ala355Thr] |
1271
..
1271
|
G/A |
rs201621400
|
- |
CDS |
Nonsynonymous[Arg360His] |
1279
..
1279
|
C/T |
rs201796906
|
- |
CDS |
Nonsynonymous[Arg363Trp] |
1306
..
1306
|
G/A |
rs200849047
|
- |
CDS |
Nonsynonymous[Glu372Lys] |
1310
..
1310
|
G/A |
rs201369504
|
- |
CDS |
Nonsynonymous[Arg373Gln] |
1332
..
1332
|
A/T/G |
rs28756858
|
- |
CDS |
|
1338
..
1338
|
C/T |
rs138815144
|
- |
CDS |
Synonymous[Val382Val] |
1339
..
1339
|
G/A |
rs144945819
|
- |
CDS |
Nonsynonymous[Gly383Arg] |
1370
..
1370
|
G/A |
rs141307368
|
- |
CDS |
Nonsynonymous[Arg393Gln] |
1373
..
1373
|
G/A |
rs201936316
|
- |
CDS |
Nonsynonymous[Arg394Gln] |
1396
..
1396
|
T/C |
rs138196312
|
- |
CDS |
Nonsynonymous[Cys402Arg] |
1398
..
1398
|
C/T |
rs202155801
|
- |
CDS |
Synonymous[Cys402Cys] |
1423
..
1423
|
C/T |
rs150464217
|
- |
CDS |
Nonsynonymous[Leu411Phe] |
1428
..
1428
|
C/T |
rs140543635
|
- |
CDS |
Synonymous[Phe412Phe] |
1429
..
1429
|
G/A |
rs199982491
|
- |
CDS |
Nonsynonymous[Glu413Lys] |
1485
..
1485
|
G/A |
rs74901418
|
- |
CDS |
Synonymous[Gln431Gln] |
1494
..
1494
|
G/T |
rs141637519
|
- |
CDS |
Nonsynonymous[Glu434Asp] |
1523
..
1523
|
G/A |
rs144924841
|
- |
CDS |
Nonsynonymous[Arg444Gln] |
1573
..
1573
|
G/A |
rs200970733
|
- |
CDS |
Nonsynonymous[Glu461Lys] |
1609
..
1609
|
G/A |
rs201471656
|
- |
CDS |
Nonsynonymous[Glu473Lys] |
1617
..
1617
|
C/T |
rs199963764
|
- |
CDS |
Synonymous[Asp475Asp] |
1630
..
1630
|
C/G |
rs142588247
|
- |
CDS |
Nonsynonymous[Gln480Glu] |
1653
..
1653
|
G/A |
rs61749595
|
- |
CDS |
Synonymous[Ser487Ser] |
1659
..
1659
|
C/T |
rs143437166
|
- |
CDS |
Synonymous[Asp489Asp] |
1674
..
1674
|
G/A |
rs71387171
|
- |
CDS |
Synonymous[Gln494Gln] |
1759
..
1759
|
C/T |
rs144990758
|
- |
CDS |
Nonsynonymous[Arg523Cys] |
1769
..
1769
|
G/A |
rs200966797
|
- |
CDS |
Nonsynonymous[Arg526His] |
1807
..
1807
|
C/A |
rs189560794
|
- |
CDS |
Nonsynonymous[Leu539Met] |
1902
..
1902
|
A/C |
rs201608804
|
- |
3'UTR |
|
1962
..
1962
|
C/T |
rs185046202
|
- |
3'UTR |
|
2010
..
2010
|
G/A |
rs191377304
|
- |
3'UTR |
|
2048
..
2048
|
T/C |
rs9936078
|
- |
3'UTR |
|
2055
..
2055
|
A/G |
rs72791604
|
- |
3'UTR |
|
2055
^
2056
|
-/CACG |
rs60155416
|
- |
3'UTR |
|
2056
^
2057
|
-/ACGC |
rs150669592
|
- |
3'UTR |
|
2057
..
2057
|
G/A |
rs79482887
|
- |
3'UTR |
|
2058
..
2058
|
C/T |
rs113455400
|
- |
3'UTR |
|
2060
..
2060
|
C/T |
rs186910892
|
- |
3'UTR |
|
2068
..
2068
|
C/T |
rs147299726
|
- |
3'UTR |
|
2071
..
2071
|
G/A |
rs11860814
|
- |
3'UTR |
|
2071
^
2072
|
-/GCGC |
rs71691865
|
- |
3'UTR |
|
2076
^
2077
|
-/AC |
rs200214918
|
- |
3'UTR |
|
2195
..
2195
|
G/T |
rs183288284
|
- |
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 |
|