Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
22
..
22
|
T/A |
rs185682995
|
+ |
CDS |
Nonsynonymous[Cys8Ser] |
35
..
35
|
G/C |
rs72790010
|
+ |
CDS |
Nonsynonymous[Arg12Pro] |
77
..
77
|
C/G |
rs17097231
|
+ |
CDS |
Nonsynonymous[Pro26Arg] |
110
..
110
|
T/C |
rs201518165
|
+ |
CDS |
Nonsynonymous[Ile37Thr] |
172
..
172
|
G/A |
rs13171859
|
+ |
CDS |
Nonsynonymous[Val58Ile] |
196
..
196
|
C/G |
rs146919505
|
+ |
CDS |
Nonsynonymous[Leu66Val] |
216
..
216
|
G/A |
rs188525608
|
+ |
CDS |
Synonymous[Lys72Lys] |
235
..
235
|
C/A |
rs115198789
|
+ |
CDS |
Nonsynonymous[Pro79Thr] |
319
..
319
|
G/A |
rs150944400
|
+ |
CDS |
Nonsynonymous[Asp107Asn] |
358
..
358
|
G/A |
rs62621827
|
+ |
CDS |
Nonsynonymous[Ala120Thr] |
430
..
430
|
G/A |
rs180935383
|
+ |
CDS |
Nonsynonymous[Glu144Lys] |
531
..
531
|
C/T |
rs79500662
|
+ |
CDS |
Synonymous[Tyr177Tyr] |
743
..
743
|
G/C |
rs116335001
|
+ |
CDS |
Nonsynonymous[Arg248Thr] |
878
..
878
|
A/G |
rs185853995
|
+ |
CDS |
Nonsynonymous[Asn293Ser] |
1025
..
1025
|
A/T |
rs150123769
|
+ |
CDS |
Nonsynonymous[Asp342Val] |
1208
..
1208
|
A/G |
rs138881803
|
+ |
CDS |
Nonsynonymous[Lys403Arg] |
1216
..
1216
|
A/T |
rs200180237
|
+ |
CDS |
Nonsynonymous[Thr406Ser] |
1248
..
1248
|
A/G |
rs74488479
|
+ |
CDS |
Synonymous[Pro416Pro] |
1374
..
1374
|
G/T |
rs142115917
|
+ |
CDS |
Nonsynonymous[Met458Ile] |
1419
..
1419
|
A/G |
rs199916536
|
+ |
CDS |
Synonymous[Gln473Gln] |
1543
..
1543
|
T/C |
rs192424877
|
+ |
CDS |
Nonsynonymous[Phe515Leu] |
1602
..
1602
|
C/T |
rs10062250
|
+ |
CDS |
Synonymous[Ala534Ala] |
1603
..
1603
|
C/A |
rs1860251
|
+ |
CDS |
Nonsynonymous[Arg535Ser] |
1605
..
1605
|
C/G |
rs1860252
|
+ |
CDS |
Synonymous[Arg535Arg] |
1617
..
1617
|
G/C |
rs1860253
|
+ |
CDS |
Synonymous[Ser539Ser] |
1646
..
1646
|
G/A |
rs202187251
|
+ |
CDS |
Nonsynonymous[Arg549His] |
1653
..
1653
|
A/G |
rs1860254
|
+ |
CDS |
Synonymous[Leu551Leu] |
1705
..
1705
|
C/A |
rs138456654
|
+ |
CDS |
Nonsynonymous[Pro569Thr] |
1753
..
1753
|
G/A |
rs201231976
|
+ |
CDS |
Nonsynonymous[Gly585Ser] |
1814
..
1814
|
C/A |
rs202129585
|
+ |
CDS |
Nonsynonymous[Ser605Tyr] |
1933
..
1933
|
G/T |
rs62621761
|
+ |
CDS |
Nonsynonymous[Ala645Ser] |
1971
..
1971
|
G/C |
rs73265834
|
+ |
CDS |
Synonymous[Thr657Thr] |
2036
..
2036
|
G/C |
rs62378417
|
+ |
CDS |
Nonsynonymous[Arg679Pro] |
2059
..
2059
|
A/G |
rs57735633
|
+ |
CDS |
Nonsynonymous[Lys687Glu] |
2136
..
2136
|
C/A |
rs183808051
|
+ |
CDS |
Synonymous[Ser712Ser] |
2283
..
2283
|
C/T |
rs187134440
|
+ |
CDS |
Synonymous[Ala761Ala] |
2385
..
2385
|
C/T |
rs201116803
|
+ |
CDS |
Synonymous[Ala795Ala] |
2390
..
2390
|
G/T |
rs201960802
|
+ |
CDS |
Nonsynonymous[Gly797Val] |
2417
..
2417
|
T/C |
rs190493890
|
+ |
CDS |
Nonsynonymous[Leu806Ser] |
2458
..
2458
|
G/A |
rs201391904
|
+ |
CDS |
Nonsynonymous[Ala820Thr] |
2470
..
2470
|
G/A |
rs200418116
|
+ |
CDS |
Nonsynonymous[Gly824Ser] |
2526
..
2526
|
T/C |
rs149352680
|
+ |
CDS |
Synonymous[Phe842Phe] |
2625
..
2625
|
C/T |
rs143630962
|
+ |
CDS |
Synonymous[Ser875Ser] |
2626
..
2626
|
G/A |
rs114669158
|
+ |
CDS |
Nonsynonymous[Ala876Thr] |
2629
..
2629
|
C/T |
rs148119281
|
+ |
CDS |
Nonsynonymous[Arg877Cys] |
2634
..
2634
|
C/T |
rs141873183
|
+ |
CDS |
Synonymous[Tyr878Tyr] |
2637
..
2637
|
A/G |
rs2233612
|
+ |
CDS |
Synonymous[Gly879Gly] |
2659
..
2659
|
G/A |
rs116366286
|
+ |
CDS |
Nonsynonymous[Val887Met] |
2672
..
2672
|
G/A |
rs61749029
|
+ |
CDS |
Nonsynonymous[Arg891His] |
2699
..
2699
|
A/G |
rs201009079
|
+ |
CDS |
Nonsynonymous[Asn900Ser] |
2715
..
2715
|
C/T |
rs143362044
|
+ |
CDS |
Synonymous[Asn905Asn] |
2758
..
2758
|
G/A |
rs200541479
|
+ |
CDS |
Nonsynonymous[Gly920Ser] |
2774
..
2774
|
C/T |
rs202071188
|
+ |
CDS |
Nonsynonymous[Ser925Leu] |
2793
..
2793
|
G/A |
rs147534370
|
+ |
CDS |
Synonymous[Lys931Lys] |
2825
..
2825
|
C/T |
rs201024828
|
+ |
3'UTR |
|
2826
..
2826
|
G/A |
rs2233613
|
+ |
3'UTR |
|
2931
..
2931
|
G/A |
rs76613492
|
+ |
3'UTR |
|
2987
..
2987
|
T/C |
rs115159796
|
+ |
3'UTR |
|
2997
..
2997
|
C/A |
rs191106767
|
+ |
3'UTR |
|
3233
..
3233
|
C/A |
rs146235929
|
+ |
3'UTR |
|
3251
..
3251
|
G/C |
rs4912608
|
+ |
3'UTR |
|
3326
..
3326
|
T/G |
rs148447880
|
+ |
3'UTR |
|
3488
..
3488
|
G/A |
rs142624814
|
+ |
3'UTR |
|
3509
..
3509
|
T/C |
rs113814137
|
+ |
3'UTR |
|
3515
..
3515
|
C/T |
rs150999050
|
+ |
3'UTR |
|
3522
..
3522
|
T/G |
rs187622252
|
+ |
3'UTR |
|
3711
..
3711
|
A/G |
rs192947391
|
+ |
3'UTR |
|
3794
..
3794
|
T/C |
rs140884268
|
+ |
3'UTR |
|
3817
..
3817
|
G/A |
rs111365449
|
+ |
3'UTR |
|
4008
..
4008
|
A/G |
rs78180647
|
+ |
3'UTR |
|
4076
..
4076
|
G/A |
rs185198109
|
+ |
3'UTR |
|
4169
..
4169
|
C/T |
rs147780926
|
+ |
3'UTR |
|
4462
..
4462
|
C/T |
rs141207714
|
+ |
3'UTR |
|
4481
..
4481
|
G/T |
rs189734474
|
+ |
3'UTR |
|
4537
..
4537
|
C/T |
rs112402554
|
+ |
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 |
|