Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
34
..
34
|
G/T |
rs35275033
|
+ |
5'UTR |
|
87
..
87
|
C/A |
rs34052294
|
+ |
5'UTR |
|
111
..
111
|
G/A |
rs11760706
|
+ |
5'UTR |
|
209
..
209
|
C/T |
rs7782773
|
+ |
5'UTR |
|
317
..
317
|
T/G |
rs192282583
|
+ |
CDS |
Nonsynonymous[Leu32Trp] |
335
..
335
|
C/G |
rs17866277
|
+ |
CDS |
Nonsynonymous[Thr38Ser] |
371
..
371
|
G/A |
rs140679817
|
+ |
CDS |
Nonsynonymous[Arg50Gln] |
405
..
405
|
C/T |
rs144891494
|
+ |
CDS |
Synonymous[Pro61Pro] |
575
..
575
|
A/G |
rs187133761
|
+ |
CDS |
Nonsynonymous[His118Arg] |
581
..
581
|
G/A |
rs138436598
|
+ |
CDS |
Nonsynonymous[Ser120Asn] |
591
..
591
|
G/A |
rs55722725
|
+ |
CDS |
Synonymous[Ser123Ser] |
665
..
665
|
C/T |
rs148988868
|
+ |
CDS |
Nonsynonymous[Thr148Ile] |
669
..
669
|
A/G |
rs145790847
|
+ |
CDS |
Synonymous[Val149Val] |
678
..
678
|
G/A |
rs200795779
|
+ |
CDS |
Synonymous[Gly152Gly] |
741
..
741
|
G/A |
rs138497570
|
+ |
CDS |
Synonymous[Gly173Gly] |
750
..
750
|
C/T |
rs78919227
|
+ |
CDS |
Synonymous[Phe176Phe] |
799
..
799
|
A/G |
rs146138173
|
+ |
CDS |
Nonsynonymous[Ile193Val] |
837
..
837
|
G/A |
rs56269509
|
+ |
CDS |
Synonymous[Thr205Thr] |
903
..
903
|
G/A/T |
rs55664580
|
+ |
CDS |
|
906
..
906
|
G/A |
rs184702498
|
+ |
CDS |
Synonymous[Leu228Leu] |
918
..
918
|
T/C |
rs141395840
|
+ |
CDS |
Synonymous[Asn232Asn] |
956
..
956
|
C/G |
rs150860380
|
+ |
CDS |
Nonsynonymous[Ser245Cys] |
1005
..
1005
|
C/T |
rs139294759
|
+ |
CDS |
Synonymous[Asn261Asn] |
1047
..
1047
|
C/T |
rs202149959
|
+ |
CDS |
Synonymous[Phe275Phe] |
1068
..
1068
|
C/T |
rs201386540
|
+ |
CDS |
Synonymous[Ser282Ser] |
1091
..
1091
|
A/G |
rs202143669
|
+ |
CDS |
Nonsynonymous[Asn290Ser] |
1093
..
1093
|
G/A |
rs144455762
|
+ |
CDS |
Nonsynonymous[Glu291Lys] |
1105
..
1105
|
T/C |
rs147407359
|
+ |
CDS |
Synonymous[Leu295Leu] |
1144
..
1144
|
G/C |
rs201692399
|
+ |
CDS |
Nonsynonymous[Glu308Gln] |
1251
..
1251
|
A/G |
rs112955689
|
+ |
CDS |
Synonymous[Glu343Glu] |
1253
..
1253
|
G/A |
rs139618090
|
+ |
CDS |
Nonsynonymous[Arg344Gln] |
1280
..
1280
|
A/G |
rs145309096
|
+ |
CDS |
Nonsynonymous[Asn353Ser] |
1296
..
1296
|
T/C |
rs199729119
|
+ |
CDS |
Synonymous[Pro358Pro] |
1357
..
1357
|
C/T |
rs34419285
|
+ |
CDS |
Nonsynonymous[Leu379Phe] |
1358
..
1358
|
T/G |
rs145058405
|
+ |
CDS |
Nonsynonymous[Leu379Arg] |
1385
..
1385
|
A/G |
rs149042459
|
+ |
CDS |
Nonsynonymous[Tyr388Cys] |
1396
..
1396
|
G/A |
rs112642464
|
+ |
CDS |
Nonsynonymous[Ala392Thr] |
1401
..
1401
|
G/A |
rs114347546
|
+ |
CDS |
Synonymous[Glu393Glu] |
1449
..
1449
|
G/A |
rs151182341
|
+ |
CDS |
Synonymous[Ser409Ser] |
1470
..
1470
|
C/T |
rs56412135
|
+ |
CDS |
Synonymous[His416His] |
1495
..
1495
|
C/G |
rs140184613
|
+ |
CDS |
Nonsynonymous[Arg425Gly] |
1498
..
1498
|
C/G |
rs200612683
|
+ |
CDS |
Nonsynonymous[Leu426Val] |
1576
..
1576
|
C/T |
rs145303395
|
+ |
CDS |
Nonsynonymous[Arg452Trp] |
1577
..
1577
|
G/A |
rs74839397
|
+ |
CDS |
Nonsynonymous[Arg452Gln] |
1609
..
1609
|
A/C |
rs35643773
|
+ |
CDS |
Nonsynonymous[Ser463Arg] |
1612
..
1612
|
C/G |
rs199515743
|
+ |
CDS |
Nonsynonymous[Leu464Val] |
1622
..
1622
|
G/A |
rs141334351
|
+ |
CDS |
Nonsynonymous[Ser467Asn] |
1651
..
1651
|
G/T |
rs192554076
|
+ |
3'UTR |
|
1824
..
1824
|
C/T |
rs12538034
|
+ |
3'UTR |
|
1896
..
1896
|
G/A |
rs186946911
|
+ |
3'UTR |
|
1901
..
1901
|
T/C |
rs117606486
|
+ |
3'UTR |
|
1956
..
1956
|
G/A |
rs79425377
|
+ |
3'UTR |
|
1996
..
1996
|
A/- |
rs57373891
|
+ |
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 |
|