Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
122
..
122
|
A/G |
rs199604256
|
+ |
CDS |
Nonsynonymous[Met1Val] |
132
..
132
|
T/A |
rs202075418
|
+ |
CDS |
Nonsynonymous[Ile4Lys] |
156
..
156
|
C/T |
rs200052870
|
+ |
CDS |
Nonsynonymous[Ala12Val] |
171
..
171
|
A/G |
rs150221608
|
+ |
CDS |
Nonsynonymous[Lys17Arg] |
183
..
183
|
C/T |
rs142184584
|
+ |
CDS |
Nonsynonymous[Ala21Val] |
184
..
184
|
G/A |
rs11549709
|
+ |
CDS |
Synonymous[Ala21Ala] |
188
..
188
|
G/A |
rs35582308
|
+ |
CDS |
Nonsynonymous[Val23Met] |
199
..
199
|
C/T |
rs150541057
|
+ |
CDS |
Synonymous[His26His] |
217
..
217
|
C/T |
rs199919057
|
+ |
CDS |
Synonymous[Ile32Ile] |
221
..
221
|
G/A |
rs142125927
|
+ |
CDS |
Nonsynonymous[Gly34Arg] |
238
..
238
|
G/A |
rs11549708
|
+ |
CDS |
Synonymous[Ala39Ala] |
258
..
258
|
C/T |
rs187123516
|
+ |
CDS |
Nonsynonymous[Thr46Met] |
292
..
292
|
G/C |
rs200123840
|
+ |
CDS |
Nonsynonymous[Lys57Asn] |
352
..
352
|
G/A |
rs201037948
|
+ |
CDS |
Synonymous[Gly77Gly] |
359
..
359
|
C/T |
rs76249490
|
+ |
CDS |
Nonsynonymous[His80Tyr] |
361
..
361
|
C/T |
rs113667144
|
+ |
CDS |
Synonymous[His80His] |
362
..
362
|
T/C |
rs200349511
|
+ |
CDS |
Nonsynonymous[Phe81Leu] |
376
..
376
|
T/G |
rs2297411
|
+ |
CDS |
Nonsynonymous[His85Gln] |
378
..
378
|
C/T |
rs150377969
|
+ |
CDS |
Nonsynonymous[Ala86Val] |
379
..
379
|
A/C |
rs137872711
|
+ |
CDS |
Synonymous[Ala86Ala] |
380
..
380
|
G/A |
rs138572539
|
+ |
CDS |
Nonsynonymous[Ala87Thr] |
384
..
384
|
G/T |
rs141687205
|
+ |
CDS |
Nonsynonymous[Gly88Val] |
412
..
412
|
C/T |
rs111529228
|
+ |
CDS |
Synonymous[Ser97Ser] |
413
..
413
|
G/T |
rs200000374
|
+ |
CDS |
Nonsynonymous[Ala98Ser] |
419
..
419
|
G/T |
rs150696959
|
+ |
CDS |
Nonsynonymous[Asp100Tyr] |
446
..
446
|
C/G |
rs201479287
|
+ |
CDS |
Nonsynonymous[His109Asp] |
456
..
456
|
G/A |
rs147889685
|
+ |
CDS |
Nonsynonymous[Ser112Asn] |
505
..
505
|
C/T |
rs139970507
|
+ |
CDS |
Synonymous[Ala128Ala] |
523
..
523
|
C/T |
rs200182503
|
+ |
CDS |
Synonymous[Ala134Ala] |
588
..
588
|
T/C |
rs147812454
|
+ |
CDS |
Nonsynonymous[Met156Thr] |
593
..
593
|
T/C |
rs142652509
|
+ |
CDS |
Nonsynonymous[Phe158Leu] |
642
..
642
|
C/A |
rs181579601
|
+ |
CDS |
Nonsynonymous[Thr174Lys] |
646
..
646
|
C/T |
rs201787750
|
+ |
CDS |
Synonymous[Ala175Ala] |
685
..
685
|
C/T |
rs140897240
|
+ |
CDS |
Synonymous[Pro188Pro] |
708
..
708
|
C/T |
rs200762439
|
+ |
CDS |
Nonsynonymous[Thr196Met] |
715
..
715
|
C/T |
rs138547552
|
+ |
CDS |
Synonymous[Ser198Ser] |
722
..
722
|
G/T |
rs188599627
|
+ |
CDS |
Nonsynonymous[Ala201Ser] |
726
..
726
|
G/A |
rs145350362
|
+ |
CDS |
Nonsynonymous[Arg202Gln] |
732
..
732
|
G/A |
rs200541514
|
+ |
CDS |
Nonsynonymous[Arg204Gln] |
739
..
739
|
G/A |
rs115855910
|
+ |
CDS |
Synonymous[Val206Val] |
758
..
758
|
C/T |
rs119468005
|
+ |
CDS |
Nonsynonymous[Arg213Trp] |
800
..
800
|
G/A |
rs199694417
|
+ |
CDS |
Nonsynonymous[Gly227Arg] |
844
..
844
|
C/- |
rs35757883
|
+ |
CDS |
|
851
..
851
|
G/C |
rs199619932
|
+ |
CDS |
Nonsynonymous[Gly244Arg] |
863
..
863
|
G/A |
rs148376283
|
+ |
CDS |
Nonsynonymous[Val248Met] |
866
..
866
|
C/T |
rs199958142
|
+ |
CDS |
Synonymous[Leu249Leu] |
901
..
901
|
A/G |
rs147447166
|
+ |
CDS |
Synonymous[Ala260Ala] |
906
..
906
|
G/A |
rs145422777
|
+ |
CDS |
Nonsynonymous[Arg262Gln] |
915
..
915
|
G/A |
rs199696414
|
+ |
CDS |
Nonsynonymous[Arg265His] |
918
..
918
|
C/T |
rs149924675
|
+ |
CDS |
Nonsynonymous[Thr266Met] |
932
..
932
|
C/T |
rs145034527
|
+ |
CDS |
Nonsynonymous[Arg271Cys] |
936
..
936
|
G/A/T |
rs119468006
|
+ |
CDS |
|
975
..
975
|
A/C |
rs143493998
|
+ |
CDS |
Nonsynonymous[Asp285Ala] |
994
..
994
|
C/T |
rs200849486
|
+ |
CDS |
Synonymous[Pro291Pro] |
997
..
997
|
C/G |
rs200155917
|
+ |
CDS |
Nonsynonymous[His292Gln] |
1012
..
1012
|
C/T |
rs55968053
|
+ |
CDS |
Synonymous[Phe297Phe] |
1016
..
1016
|
C/T |
rs201908721
|
+ |
CDS |
Nonsynonymous[Arg299Trp] |
1022
..
1022
|
C/T |
rs140246430
|
+ |
CDS |
Nonsynonymous[Arg301Trp] |
1030
..
1030
|
C/T |
rs202036077
|
+ |
CDS |
Synonymous[Ser303Ser] |
1069
..
1069
|
C/T |
rs55637780
|
+ |
CDS |
Synonymous[Leu316Leu] |
1110
..
1110
|
A/G |
rs150243147
|
+ |
CDS |
Nonsynonymous[Tyr330Cys] |
1112
..
1112
|
T/C |
rs201334858
|
+ |
CDS |
Nonsynonymous[Phe331Leu] |
1114
..
1114
|
C/T |
rs41303129
|
+ |
CDS |
Synonymous[Phe331Phe] |
1130
..
1130
|
G/A |
rs143816043
|
+ |
CDS |
Nonsynonymous[Ala337Thr] |
1132
..
1132
|
C/T |
rs36006006
|
+ |
CDS |
Synonymous[Ala337Ala] |
1141
..
1141
|
C/T |
rs181558991
|
+ |
CDS |
Synonymous[Ser340Ser] |
1143
..
1143
|
T/C |
rs55798516
|
+ |
CDS |
Nonsynonymous[Ile341Thr] |
1174
..
1174
|
C/T |
rs55958233
|
+ |
CDS |
Synonymous[Gly351Gly] |
1210
..
1210
|
C/T |
rs139570869
|
+ |
CDS |
Synonymous[Gly363Gly] |
1229
..
1229
|
A/G |
rs180784380
|
+ |
CDS |
Nonsynonymous[Ser370Gly] |
1241
..
1241
|
A/C |
rs146751657
|
+ |
CDS |
Nonsynonymous[Asn374His] |
1306
..
1306
|
T/C |
rs17849927
|
+ |
CDS |
Synonymous[Ile395Ile] |
1309
..
1309
|
C/T |
rs139133094
|
+ |
CDS |
Synonymous[Asp396Asp] |
1314
..
1314
|
T/C |
rs199921339
|
+ |
CDS |
Nonsynonymous[Leu398Pro] |
1336
..
1336
|
G/A |
rs149048093
|
+ |
CDS |
Synonymous[Glu405Glu] |
1367
..
1367
|
C/T |
rs151292389
|
+ |
CDS |
Nonsynonymous[Arg416Cys] |
1372
..
1372
|
G/A |
rs202227926
|
+ |
CDS |
Synonymous[Lys417Lys] |
1379
..
1379
|
G/A |
rs147097934
|
+ |
CDS |
Nonsynonymous[Asp420Asn] |
1385
..
1385
|
C/T |
rs200375779
|
+ |
CDS |
Synonymous[Leu422Leu] |
1407
..
1407
|
A/G |
rs144147839
|
+ |
CDS |
Nonsynonymous[Tyr429Cys] |
1453
..
1453
|
C/T |
rs138727410
|
+ |
CDS |
Synonymous[Thr444Thr] |
1499
..
1499
|
A/G |
rs149364914
|
+ |
CDS |
Nonsynonymous[Ser460Gly] |
1511
..
1511
|
C/T |
rs139900636
|
+ |
CDS |
Nonsynonymous[Arg464Trp] |
1517
..
1517
|
G/A |
rs201134290
|
+ |
CDS |
Nonsynonymous[Glu466Lys] |
1530
..
1530
|
A/G |
rs200800365
|
+ |
CDS |
Nonsynonymous[Asn470Ser] |
1543
..
1543
|
G/A |
rs202132812
|
+ |
CDS |
Synonymous[Leu474Leu] |
1551
..
1551
|
G/- |
rs34158214
|
+ |
CDS |
|
1561
..
1561
|
C/T |
rs12593
|
- |
CDS |
Synonymous[Phe480Phe] |
1600
..
1600
|
C/A |
rs150918577
|
+ |
CDS |
Nonsynonymous[Asn493Lys] |
1654
..
1654
|
G/A |
rs201337210
|
+ |
CDS |
Synonymous[Thr511Thr] |
1655
..
1655
|
C/T |
rs149682899
|
+ |
CDS |
Nonsynonymous[Arg512Trp] |
1656
..
1656
|
G/A |
rs200115323
|
+ |
CDS |
Nonsynonymous[Arg512Gln] |
1662
..
1662
|
A/G |
rs119468008
|
+ |
CDS |
Nonsynonymous[Tyr514Cys] |
1677
..
1677
|
C/G |
rs141260985
|
+ |
CDS |
Nonsynonymous[Thr519Ser] |
1688
..
1688
|
A/G |
rs147730489
|
+ |
CDS |
Nonsynonymous[Ile523Val] |
1712
..
1712
|
G/A |
rs200930703
|
+ |
CDS |
Nonsynonymous[Asp531Asn] |
1726
..
1726
|
G/C |
rs201158713
|
+ |
CDS |
Nonsynonymous[Glu535Asp] |
1727
..
1727
|
A/G |
rs200403220
|
+ |
CDS |
Nonsynonymous[Thr536Ala] |
1731
..
1731
|
T/G |
rs199724504
|
+ |
CDS |
Nonsynonymous[Val537Gly] |
1733
..
1733
|
C/T |
rs201331131
|
+ |
CDS |
Nonsynonymous[Arg538Trp] |
1738
..
1738
|
G/A |
rs142600066
|
+ |
CDS |
Synonymous[Ala539Ala] |
1765
..
1765
|
C/T |
rs141423403
|
+ |
CDS |
Synonymous[Thr548Thr] |
1766
..
1766
|
G/A |
rs119468009
|
+ |
CDS |
Nonsynonymous[Gly549Ser] |
1772
..
1772
|
G/A |
rs119468004
|
+ |
CDS |
Nonsynonymous[Glu551Lys] |
1786
..
1786
|
G/A |
rs199874519
|
+ |
CDS |
Nonsynonymous[Met555Ile] |
1793
..
1793
|
G/A |
rs142894121
|
+ |
CDS |
Nonsynonymous[Ala558Thr] |
1798
..
1798
|
C/G |
rs200963031
|
+ |
CDS |
Nonsynonymous[His559Gln] |
1831
..
1831
|
C/T |
rs139305619
|
+ |
CDS |
Synonymous[Phe570Phe] |
1837
..
1837
|
T/C |
rs3738725
|
+ |
CDS |
Synonymous[Ser572Ser] |
1841
..
1841
|
G/A |
rs202058665
|
+ |
CDS |
Nonsynonymous[Glu574Lys] |
1860
..
1860
|
C/T |
rs199581236
|
+ |
CDS |
Nonsynonymous[Thr580Ile] |
1873
..
1873
|
C/T |
rs201865243
|
+ |
CDS |
Synonymous[Thr584Thr] |
1876
..
1876
|
G/C |
rs201171077
|
+ |
CDS |
Nonsynonymous[Glu585Asp] |
1878
..
1878
|
A/G |
rs113308613
|
+ |
CDS |
Nonsynonymous[Lys586Arg] |
1886
..
1886
|
A/C |
rs142051104
|
+ |
CDS |
Nonsynonymous[Asn589His] |
1897
..
1897
|
C/T |
rs7545723
|
+ |
CDS |
Synonymous[Pro592Pro] |
1918
..
1918
|
C/T |
rs139551241
|
+ |
CDS |
Synonymous[Leu599Leu] |
1921
..
1921
|
C/G |
rs74589348
|
+ |
CDS |
Synonymous[Val600Val] |
1926
..
1926
|
C/A/G |
rs61995958
|
+ |
CDS |
|
1937
..
1937
|
A/C |
rs143650593
|
+ |
CDS |
Nonsynonymous[Thr606Pro] |
1942
..
1942
|
C/T |
rs201618750
|
+ |
CDS |
Synonymous[Tyr607Tyr] |
1945
..
1945
|
C/T |
rs141270350
|
+ |
CDS |
Synonymous[Ser608Ser] |
1987
..
1987
|
G/A |
rs191944347
|
+ |
CDS |
Synonymous[Lys622Lys] |
1997
..
1997
|
C/T |
rs141725964
|
+ |
CDS |
Nonsynonymous[Arg626Cys] |
2020
..
2020
|
C/T |
rs150569155
|
+ |
CDS |
Synonymous[Phe633Phe] |
2021
..
2021
|
G/A |
rs149335528
|
+ |
CDS |
Nonsynonymous[Glu634Lys] |
2035
..
2035
|
C/T |
rs56043893
|
+ |
CDS |
Synonymous[Ser638Ser] |
2074
..
2074
|
G/A |
rs200743857
|
+ |
3'UTR |
|
2198
..
2198
|
G/A |
rs149820067
|
+ |
3'UTR |
|
2295
..
2295
|
G/A |
rs117808661
|
+ |
3'UTR |
|
2299
..
2299
|
G/A |
rs188462608
|
+ |
3'UTR |
|
2414
..
2414
|
G/A |
rs113041399
|
+ |
3'UTR |
|
2449
..
2449
|
G/A |
rs113631619
|
+ |
3'UTR |
|
2450
..
2450
|
A/T |
rs112529851
|
+ |
3'UTR |
|
2450
^
2451
|
-/T |
rs11420839
|
+ |
3'UTR |
|
2454
^
2455
|
-/T |
rs199664948
|
+ |
3'UTR |
|
2508
..
2508
|
C/G |
rs12567953
|
+ |
3'UTR |
|
2529
..
2529
|
A/G |
rs8159
|
- |
3'UTR |
|
2574
..
2574
|
G/A |
rs142056615
|
+ |
3'UTR |
|
2708
..
2708
|
G/A |
rs115542970
|
+ |
3'UTR |
|
2721
..
2721
|
G/A |
rs181352749
|
+ |
3'UTR |
|
2746
..
2746
|
G/A |
rs10482
|
- |
3'UTR |
|
2792
..
2792
|
C/T |
rs16846762
|
+ |
3'UTR |
|
2826
..
2826
|
G/A |
rs145779574
|
+ |
3'UTR |
|
2855
..
2855
|
A/G |
rs12565212
|
+ |
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 |
|