Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
35
..
35
|
T/C |
rs1056605
|
+ |
5'UTR |
|
96
..
96
|
C/T |
rs184378202
|
- |
CDS |
Synonymous[Ala7Ala] |
118
..
118
|
C/T |
rs192681330
|
- |
CDS |
AA-STOP[Arg15*] |
124
..
124
|
C/T |
rs188150385
|
- |
CDS |
Nonsynonymous[Pro17Ser] |
165
..
165
|
C/T |
rs2230416
|
+ |
CDS |
Synonymous[His30His] |
166
..
166
|
G/A |
rs149920625
|
- |
CDS |
Nonsynonymous[Asp31Asn] |
172
..
172
|
A/G |
rs200756121
|
- |
CDS |
Nonsynonymous[Thr33Ala] |
192
..
192
|
G/A |
rs1056607
|
+ |
CDS |
Synonymous[Val39Val] |
194
..
194
|
A/G |
rs144210597
|
- |
CDS |
Nonsynonymous[Lys40Arg] |
311
..
311
|
G/A |
rs150911670
|
- |
CDS |
Nonsynonymous[Arg79Gln] |
336
..
336
|
T/C |
rs1056608
|
+ |
CDS |
Synonymous[Pro87Pro] |
346
..
346
|
C/T |
rs201003932
|
- |
CDS |
Nonsynonymous[Pro91Ser] |
358
..
358
|
C/T |
rs11551873
|
+ |
CDS |
Nonsynonymous[Arg95Cys] |
363
..
363
|
A/G |
rs201694077
|
- |
CDS |
Synonymous[Arg96Arg] |
381
..
381
|
C/G |
rs199784853
|
- |
CDS |
Nonsynonymous[His102Gln] |
387
..
387
|
C/T |
rs146953852
|
- |
CDS |
Synonymous[Ala104Ala] |
391
..
391
|
A/G |
rs200648839
|
- |
CDS |
Nonsynonymous[Ile106Val] |
428
..
428
|
C/T |
rs138380180
|
- |
CDS |
Nonsynonymous[Thr118Ile] |
431
..
431
|
C/T |
rs137852605
|
+ |
CDS |
Nonsynonymous[Pro119Leu] |
432
..
432
|
G/A |
rs150177807
|
- |
CDS |
Synonymous[Pro119Pro] |
446
..
446
|
C/A |
rs201699817
|
- |
CDS |
Nonsynonymous[Pro124Gln] |
456
..
456
|
T/C |
rs150998038
|
- |
CDS |
Synonymous[Asn127Asn] |
504
..
504
|
C/T |
rs190140540
|
- |
CDS |
Synonymous[Asp143Asp] |
536
..
536
|
G/A |
rs2230419
|
+ |
CDS |
Nonsynonymous[Ser154Asn] |
562
..
562
|
G/C |
rs144270114
|
- |
CDS |
Nonsynonymous[Ala163Pro] |
580
..
580
|
C/T |
rs2230420
|
+ |
CDS |
Nonsynonymous[Arg169Cys] |
636
..
636
|
C/T |
rs151100686
|
- |
CDS |
Synonymous[Tyr187Tyr] |
637
..
637
|
G/A |
rs199796274
|
- |
CDS |
Nonsynonymous[Val188Ile] |
650
..
650
|
T/G |
rs149760565
|
- |
CDS |
Nonsynonymous[Leu192Arg] |
655
..
655
|
G/A |
rs139988587
|
- |
CDS |
Nonsynonymous[Val194Met] |
663
..
663
|
C/G |
rs138462331
|
- |
CDS |
Synonymous[Thr196Thr] |
674
..
674
|
C/A |
rs200288588
|
- |
CDS |
Nonsynonymous[Thr200Asn] |
683
..
683
|
G/A |
rs142747191
|
- |
CDS |
Nonsynonymous[Arg203Gln] |
731
..
731
|
T/C |
rs2230421
|
+ |
CDS |
Nonsynonymous[Met219Thr] |
734
..
734
|
T/C |
rs201056244
|
- |
CDS |
Nonsynonymous[Phe220Ser] |
818
..
818
|
C/T |
rs140008883
|
- |
CDS |
Nonsynonymous[Pro248Leu] |
821
..
821
|
C/A |
rs200781118
|
- |
CDS |
Nonsynonymous[Ala249Asp] |
865
..
865
|
C/T |
rs140355742
|
- |
CDS |
Synonymous[Leu264Leu] |
886
..
886
|
C/T |
rs34682825
|
- |
CDS |
Synonymous[Leu271Leu] |
918
..
918
|
A/G |
rs61749339
|
- |
CDS |
Synonymous[Val281Val] |
924
..
924
|
A/C |
rs199886849
|
- |
CDS |
Synonymous[Gly283Gly] |
935
..
935
|
T/C |
rs201093644
|
- |
CDS |
Nonsynonymous[Ile287Thr] |
941
..
941
|
G/A |
rs148541545
|
- |
CDS |
Nonsynonymous[Gly289Glu] |
974
..
974
|
A/G |
rs2230422
|
+ |
CDS |
Nonsynonymous[Tyr300Cys] |
976
..
976
|
C/G |
rs1134839
|
+ |
CDS |
Nonsynonymous[Pro301Ala] |
1002
..
1002
|
C/T |
rs143164834
|
- |
CDS |
Synonymous[Ile309Ile] |
1006
..
1006
|
A/G |
rs2275601
|
+ |
CDS |
Nonsynonymous[Thr311Ala] |
1023
..
1023
|
C/T |
rs139528051
|
- |
CDS |
Synonymous[Gly316Gly] |
1026
..
1026
|
A/G |
rs199748938
|
- |
CDS |
Synonymous[Val317Val] |
1034
..
1034
|
A/G |
rs201654506
|
- |
CDS |
Nonsynonymous[His320Arg] |
1039
..
1039
|
G/A |
rs145104817
|
- |
CDS |
Nonsynonymous[Val322Met] |
1066
..
1066
|
C/G |
rs201609720
|
- |
CDS |
Nonsynonymous[Leu331Val] |
1070
..
1070
|
C/T |
rs141647564
|
- |
CDS |
Nonsynonymous[Ala332Val] |
1114
..
1114
|
C/T |
rs141837466
|
- |
CDS |
Nonsynonymous[Arg347Cys] |
1132
..
1132
|
C/T |
rs138731836
|
- |
CDS |
Nonsynonymous[Arg353Trp] |
1145
..
1145
|
C/T |
rs149077819
|
- |
CDS |
Nonsynonymous[Ser357Leu] |
1146
..
1146
|
G/A |
rs112582692
|
- |
CDS |
Synonymous[Ser357Ser] |
1147
..
1147
|
C/T |
rs145328578
|
- |
CDS |
Nonsynonymous[Pro358Ser] |
1157
..
1157
|
C/T |
rs61731741
|
- |
CDS |
Nonsynonymous[Ser361Phe] |
1165
..
1165
|
G/A |
rs192884088
|
- |
CDS |
Nonsynonymous[Ala364Thr] |
1189
..
1189
|
C/T |
rs200180113
|
- |
CDS |
Nonsynonymous[Arg372Cys] |
1229
..
1229
|
A/G |
rs199944519
|
- |
CDS |
Nonsynonymous[Tyr385Cys] |
1233
..
1233
|
T/C |
rs140194269
|
- |
CDS |
Synonymous[Phe386Phe] |
1312
..
1312
|
C/T |
rs144672633
|
- |
CDS |
Nonsynonymous[Arg413Cys] |
1314
..
1314
|
C/T |
rs149483088
|
- |
CDS |
Synonymous[Arg413Arg] |
1353
..
1353
|
C/G |
rs139059920
|
- |
CDS |
Nonsynonymous[Phe426Leu] |
1364
..
1364
|
A/G |
rs138769892
|
- |
CDS |
Nonsynonymous[Tyr430Cys] |
1375
..
1375
|
G/T |
rs141750416
|
- |
CDS |
Nonsynonymous[Ala434Ser] |
1399
..
1399
|
T/C |
rs61749338
|
- |
CDS |
Synonymous[Leu442Leu] |
1404
..
1404
|
G/C |
rs200550770
|
- |
CDS |
Synonymous[Thr443Thr] |
1406
..
1406
|
C/A |
rs186333444
|
- |
CDS |
Nonsynonymous[Thr444Asn] |
1408
..
1408
|
A/G |
rs148033978
|
- |
CDS |
Nonsynonymous[Met445Val] |
1422
..
1422
|
C/T |
rs147681505
|
- |
CDS |
Synonymous[His449His] |
1425
..
1425
|
T/C |
rs146355121
|
- |
CDS |
Synonymous[Asp450Asp] |
1437
..
1437
|
C/T |
rs141510343
|
- |
CDS |
Synonymous[Phe454Phe] |
1474
..
1474
|
A/T |
rs201212744
|
- |
CDS |
Nonsynonymous[Ile467Phe] |
1603
..
1603
|
G/A |
rs78828796
|
- |
CDS |
Nonsynonymous[Ala510Thr] |
1619
..
1619
|
C/T |
rs138835126
|
- |
CDS |
Nonsynonymous[Pro515Leu] |
1633
..
1633
|
C/G |
rs201172537
|
- |
CDS |
Nonsynonymous[Leu520Val] |
1684
..
1684
|
T/G |
rs80299691
|
- |
CDS |
Nonsynonymous[Ser537Ala] |
1745
..
1745
|
C/T |
rs202123513
|
- |
CDS |
Nonsynonymous[Ala557Val] |
1746
..
1746
|
G/A |
rs151087316
|
- |
CDS |
Synonymous[Ala557Ala] |
1756
..
1756
|
C/G |
rs192296368
|
- |
CDS |
Nonsynonymous[Pro561Ala] |
1781
..
1781
|
C/G |
rs137852606
|
+ |
CDS |
Nonsynonymous[Pro569Arg] |
1783
..
1783
|
T/C |
rs146204188
|
- |
CDS |
Nonsynonymous[Tyr570His] |
1805
..
1805
|
C/T |
rs143181005
|
- |
CDS |
Nonsynonymous[Thr577Ile] |
1831
..
1831
|
C/T |
rs199675363
|
- |
CDS |
Nonsynonymous[Arg586Cys] |
1836
..
1836
|
C/T |
rs149534786
|
- |
CDS |
Synonymous[Asp587Asp] |
1837
..
1837
|
G/A |
rs138067182
|
- |
CDS |
Nonsynonymous[Glu588Lys] |
1877
..
1877
|
A/C |
rs141243190
|
- |
CDS |
Nonsynonymous[Lys601Thr] |
1939
..
1939
|
T/G |
rs201103298
|
- |
3'UTR |
|
1987
..
1987
|
A/G |
rs190693979
|
- |
3'UTR |
|
2022
^
2023
|
-/G |
rs34846453
|
- |
3'UTR |
|
2117
..
2117
|
A/G |
rs113990759
|
- |
3'UTR |
|
2177
..
2177
|
C/G |
rs11551874
|
- |
3'UTR |
|
2252
..
2252
|
T/G |
rs16844841
|
- |
3'UTR |
|
2578
..
2578
|
G/A |
rs80028106
|
- |
3'UTR |
|
2643
..
2643
|
A/G |
rs115463653
|
- |
3'UTR |
|
2691
..
2691
|
A/T |
rs75904736
|
- |
3'UTR |
|
2781
..
2781
|
C/G |
rs114577052
|
- |
3'UTR |
|
2866
..
2866
|
A/G |
rs115448388
|
- |
3'UTR |
|
2895
..
2895
|
G/A |
rs146434391
|
- |
3'UTR |
|
3085
..
3085
|
G/A |
rs186699858
|
- |
3'UTR |
|
3185
..
3185
|
A/G |
rs142324082
|
- |
3'UTR |
|
3195
..
3195
|
C/G |
rs138408339
|
- |
3'UTR |
|
3227
..
3227
|
C/G |
rs181244136
|
- |
3'UTR |
|
3260
..
3260
|
T/C |
rs11551875
|
- |
3'UTR |
|
3283
..
3283
|
T/C |
rs14205
|
+ |
3'UTR |
|
3296
..
3296
|
A/G |
rs188426506
|
- |
3'UTR |
|
3449
..
3449
|
C/T |
rs185887146
|
- |
3'UTR |
|
3454
..
3454
|
G/A |
rs7406
|
+ |
3'UTR |
|
3472
..
3472
|
T/- |
rs71648230
|
- |
3'UTR |
|
3508
..
3508
|
G/A |
rs181401210
|
- |
3'UTR |
|
3554
..
3554
|
A/G |
rs148878615
|
- |
3'UTR |
|
3572
..
3572
|
C/T |
rs112847128
|
- |
3'UTR |
|
3573
^
3574
|
-/C |
rs36104417
|
- |
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 |
|