Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
2
..
2
|
G/C |
rs114710253
|
- |
CDS |
Nonsynonymous[Glu1Gln] |
176
..
176
|
G/A |
rs201873553
|
- |
CDS |
Nonsynonymous[Glu59Lys] |
191
..
191
|
G/A |
rs193274691
|
- |
CDS |
Nonsynonymous[Val64Ile] |
199
..
199
|
G/A |
rs187529527
|
- |
CDS |
Synonymous[Glu66Glu] |
211
..
211
|
A/C |
rs200441089
|
- |
CDS |
Nonsynonymous[Glu70Asp] |
290
..
290
|
A/G |
rs17778003
|
- |
CDS |
Nonsynonymous[Arg97Gly] |
337
..
337
|
G/A |
rs200457313
|
- |
CDS |
Synonymous[Gly112Gly] |
343
..
343
|
G/A |
rs202113873
|
- |
CDS |
Synonymous[Thr114Thr] |
385
..
385
|
G/A |
rs200246512
|
- |
CDS |
Synonymous[Val128Val] |
400
..
400
|
C/T |
rs199849844
|
- |
CDS |
Synonymous[Asp133Asp] |
404
..
404
|
C/T |
rs12541381
|
- |
CDS |
Nonsynonymous[Pro135Ser] |
414
..
414
|
C/T |
rs146684203
|
- |
CDS |
Nonsynonymous[Pro138Leu] |
483
..
483
|
C/T |
rs143917098
|
- |
CDS |
Nonsynonymous[Thr161Met] |
484
..
484
|
G/A |
rs138394119
|
- |
CDS |
Synonymous[Thr161Thr] |
514
..
514
|
C/T |
rs200807830
|
- |
CDS |
Synonymous[Ile171Ile] |
542
..
542
|
G/C |
rs202134657
|
- |
CDS |
Nonsynonymous[Glu181Gln] |
596
..
596
|
C/T |
rs75596750
|
- |
CDS |
Nonsynonymous[Arg199Trp] |
615
..
615
|
G/C |
rs201828593
|
- |
CDS |
Nonsynonymous[Arg205Thr] |
617
..
617
|
C/G |
rs199920798
|
- |
CDS |
Nonsynonymous[Pro206Ala] |
620
..
620
|
C/T |
rs200967006
|
- |
CDS |
Nonsynonymous[Arg207Trp] |
677
..
677
|
T/C |
rs201681098
|
- |
CDS |
Nonsynonymous[Ser226Pro] |
684
..
684
|
C/T |
rs192292042
|
- |
CDS |
Nonsynonymous[Ala228Val] |
822
..
822
|
G/C |
rs199802452
|
- |
CDS |
Nonsynonymous[Arg274Pro] |
979
..
979
|
C/T |
rs143741585
|
- |
CDS |
Synonymous[His326His] |
1009
..
1009
|
G/A |
rs187092112
|
- |
CDS |
Synonymous[Gln336Gln] |
1079
..
1079
|
G/C |
rs79889362
|
- |
CDS |
Nonsynonymous[Ala360Pro] |
1085
..
1085
|
G/A |
rs182039992
|
- |
CDS |
Nonsynonymous[Asp362Asn] |
1089
..
1089
|
A/G |
rs200174150
|
- |
CDS |
Nonsynonymous[Tyr363Cys] |
1090
..
1090
|
T/C |
rs3739422
|
+ |
CDS |
Synonymous[Tyr363Tyr] |
1154
..
1154
|
A/G |
rs75824083
|
- |
CDS |
Nonsynonymous[Ile385Val] |
1169
..
1169
|
C/T |
rs143158019
|
- |
CDS |
Nonsynonymous[Arg390Cys] |
1227
..
1227
|
C/T |
rs199724546
|
- |
CDS |
Nonsynonymous[Ala409Val] |
1278
..
1278
|
T/A |
rs201752594
|
- |
CDS |
Nonsynonymous[Leu426Gln] |
1309
..
1309
|
C/G |
rs202211030
|
- |
CDS |
Synonymous[Leu436Leu] |
1315
..
1315
|
C/G |
rs201292104
|
- |
CDS |
Nonsynonymous[Asp438Glu] |
1342
^
1343
|
-/T |
rs34615535
|
- |
CDS |
|
1345
..
1345
|
C/T |
rs200140182
|
- |
CDS |
Synonymous[Asn448Asn] |
1357
..
1357
|
C/T |
rs3739423
|
+ |
CDS |
Synonymous[Arg452Arg] |
1363
^
1364
|
-/CCCCCC |
rs141961813
|
- |
CDS |
|
1378
..
1378
|
C/T |
rs201121080
|
- |
CDS |
Synonymous[His459His] |
1468
..
1468
|
C/T |
rs199567565
|
- |
CDS |
Synonymous[Phe489Phe] |
1474
..
1474
|
C/T |
rs201972924
|
- |
CDS |
Synonymous[Tyr491Tyr] |
1477
..
1477
|
C/A |
rs200259422
|
- |
CDS |
Synonymous[Val492Val] |
1483
..
1483
|
C/T |
rs115542684
|
- |
CDS |
Synonymous[Ala494Ala] |
1491
..
1491
|
G/A |
rs189623686
|
- |
CDS |
Nonsynonymous[Arg497His] |
1501
..
1501
|
C/T |
rs199619199
|
- |
CDS |
Synonymous[Phe500Phe] |
1509
..
1509
|
C/G |
rs112892337
|
- |
CDS |
Nonsynonymous[Ser503Cys] |
1532
..
1532
|
A/G |
rs200147714
|
- |
CDS |
Nonsynonymous[Lys511Glu] |
1634
..
1634
|
C/T |
rs34008545
|
- |
CDS |
Synonymous[Leu545Leu] |
1645
..
1645
|
G/C |
rs201617045
|
- |
CDS |
Nonsynonymous[Gln548His] |
1736
..
1736
|
C/T |
rs142331855
|
- |
CDS |
Nonsynonymous[Arg579Trp] |
1745
..
1745
|
C/T |
rs180691057
|
- |
CDS |
Nonsynonymous[Pro582Ser] |
1746
..
1746
|
C/T |
rs202155119
|
- |
CDS |
Nonsynonymous[Pro582Leu] |
1752
..
1752
|
C/A |
rs199682848
|
- |
CDS |
Nonsynonymous[Ala584Asp] |
1832
..
1832
|
G/A |
rs200262210
|
- |
CDS |
Nonsynonymous[Glu611Lys] |
1841
..
1841
|
G/A |
rs79599902
|
- |
CDS |
Nonsynonymous[Val614Met] |
1916
..
1916
|
G/A |
rs201380546
|
- |
CDS |
Nonsynonymous[Ala639Thr] |
2016
..
2016
|
A/G |
rs200703177
|
- |
CDS |
Nonsynonymous[Gln672Arg] |
2047
..
2047
|
C/T |
rs145169577
|
- |
CDS |
Synonymous[Gly682Gly] |
2115
..
2115
|
G/A |
rs35003767
|
- |
CDS |
Nonsynonymous[Arg705Lys] |
2118
..
2118
|
G/A |
rs202196720
|
- |
CDS |
Nonsynonymous[Cys706Tyr] |
2135
..
2135
|
G/A |
rs188333537
|
- |
CDS |
Nonsynonymous[Ala712Thr] |
2225
..
2225
|
C/G |
rs200943503
|
- |
CDS |
Nonsynonymous[Arg742Gly] |
2226
..
2226
|
G/A |
rs201041569
|
- |
CDS |
Nonsynonymous[Arg742Gln] |
2388
..
2388
|
C/A |
rs78880232
|
- |
CDS |
Nonsynonymous[Thr796Asn] |
2464
..
2464
|
C/T |
rs200425686
|
- |
CDS |
Synonymous[His821His] |
2506
..
2506
|
C/T |
rs144002982
|
- |
CDS |
Synonymous[Thr835Thr] |
2509
..
2509
|
T/C |
rs894344
|
- |
CDS |
Synonymous[Asp836Asp] |
2510
..
2510
|
G/A |
rs201031325
|
- |
CDS |
Nonsynonymous[Gly837Ser] |
2583
..
2583
|
G/A |
rs138033806
|
- |
CDS |
Nonsynonymous[Arg861Lys] |
2584
..
2584
|
G/A |
rs3739424
|
+ |
CDS |
Synonymous[Arg861Arg] |
2593
..
2593
|
T/C |
rs3739425
|
+ |
CDS |
Synonymous[Ser864Ser] |
2632
..
2632
|
G/A |
rs10505626
|
- |
CDS |
Synonymous[Leu877Leu] |
2644
..
2644
|
T/C |
rs202167634
|
- |
CDS |
Synonymous[His881His] |
2862
..
2862
|
A/G |
rs193040099
|
- |
CDS |
Nonsynonymous[Lys954Arg] |
2905
..
2905
|
A/G |
rs144631711
|
- |
CDS |
Synonymous[Lys968Lys] |
2912
^
2913
|
-/C |
rs35426796
|
- |
CDS |
|
2919
..
2919
|
A/G |
rs199996485
|
- |
CDS |
Nonsynonymous[Asp973Gly] |
3024
..
3024
|
C/T |
rs200726532
|
- |
CDS |
Nonsynonymous[Ala1008Val] |
3196
..
3196
|
G/A |
rs199671548
|
- |
CDS |
Synonymous[Ala1065Ala] |
3247
..
3247
|
A/G |
rs114589731
|
- |
CDS |
Synonymous[Val1082Val] |
3341
..
3341
|
G/A |
rs187568306
|
- |
CDS |
Nonsynonymous[Glu1114Lys] |
3346
..
3346
|
G/A |
rs200051218
|
- |
CDS |
Synonymous[Glu1115Glu] |
3366
..
3366
|
C/G |
rs181970358
|
- |
CDS |
Nonsynonymous[Thr1122Arg] |
3397
..
3397
|
G/A |
rs188324571
|
- |
CDS |
Synonymous[Ala1132Ala] |
3425
..
3425
|
C/T |
rs140801453
|
- |
CDS |
Synonymous[Leu1142Leu] |
3463
..
3463
|
G/A |
rs61748832
|
- |
CDS |
Synonymous[Thr1154Thr] |
3485
..
3485
|
G/A |
rs200658838
|
- |
CDS |
Nonsynonymous[Gly1162Arg] |
3525
..
3525
|
T/C |
rs201818197
|
- |
CDS |
Nonsynonymous[Met1175Thr] |
3559
..
3559
|
G/A |
rs143856467
|
- |
CDS |
Synonymous[Pro1186Pro] |
3567
..
3567
|
A/G |
rs199857189
|
- |
CDS |
Nonsynonymous[Glu1189Gly] |
3619
..
3619
|
C/T |
rs148077944
|
- |
3'UTR |
|
3688
..
3688
|
C/T |
rs143609415
|
- |
3'UTR |
|
3760
..
3760
|
C/T |
rs11538239
|
- |
3'UTR |
|
3782
..
3782
|
C/G |
rs185127495
|
- |
3'UTR |
|
3871
..
3871
|
T/C |
rs149312401
|
- |
3'UTR |
|
3907
..
3907
|
C/G |
rs138616859
|
- |
3'UTR |
|
3958
..
3958
|
C/T |
rs116877116
|
- |
3'UTR |
|
4117
..
4117
|
C/T |
rs144769555
|
- |
3'UTR |
|
4143
..
4143
|
C/T |
rs180881285
|
- |
3'UTR |
|
4166
..
4166
|
C/T |
rs188846777
|
- |
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 |
|