Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
36
..
36
|
C/A |
rs11546963
|
+ |
5'UTR |
|
38
^
39
|
-/T |
rs35398050
|
+ |
5'UTR |
|
97
^
98
|
-/T |
rs34871304
|
+ |
5'UTR |
|
100
..
100
|
C/G |
rs74471685
|
+ |
5'UTR |
|
125
..
125
|
A/G |
rs141535938
|
+ |
5'UTR |
|
198
..
198
|
C/A |
rs73553028
|
+ |
5'UTR |
|
311
..
311
|
G/A |
rs201569191
|
+ |
CDS |
Synonymous[Ala11Ala] |
357
..
357
|
A/G |
rs61746362
|
+ |
CDS |
Nonsynonymous[Ile27Val] |
390
..
390
|
A/G |
rs139034588
|
+ |
CDS |
Nonsynonymous[Thr38Ala] |
418
..
418
|
G/A |
rs200607629
|
+ |
CDS |
Nonsynonymous[Arg47Gln] |
426
..
426
|
A/G |
rs149889245
|
+ |
CDS |
Nonsynonymous[Ser50Gly] |
467
..
467
|
C/T |
rs147121129
|
+ |
CDS |
Synonymous[Ala63Ala] |
493
..
493
|
A/G |
rs113552051
|
+ |
CDS |
Nonsynonymous[Asp72Gly] |
499
..
499
|
G/A |
rs199640592
|
+ |
CDS |
Nonsynonymous[Arg74Lys] |
509
..
509
|
A/G |
rs149224173
|
+ |
CDS |
Synonymous[Pro77Pro] |
522
..
522
|
C/A |
rs200887019
|
+ |
CDS |
Synonymous[Arg82Arg] |
565
..
565
|
A/G |
rs142385118
|
+ |
CDS |
Nonsynonymous[Lys96Arg] |
646
..
646
|
A/T |
rs139606229
|
+ |
CDS |
Nonsynonymous[Tyr123Phe] |
686
..
686
|
A/C |
rs146849995
|
+ |
CDS |
Nonsynonymous[Glu136Asp] |
783
..
783
|
T/C |
rs140565458
|
+ |
CDS |
Synonymous[Leu169Leu] |
800
..
800
|
A/G |
rs202149086
|
+ |
CDS |
Synonymous[Ala174Ala] |
908
..
908
|
C/T |
rs145688335
|
+ |
CDS |
Synonymous[Ala210Ala] |
1203
..
1203
|
A/T |
rs199502191
|
+ |
CDS |
Nonsynonymous[Thr309Ser] |
1221
..
1221
|
T/C |
rs146588672
|
+ |
CDS |
Synonymous[Leu315Leu] |
1237
..
1237
|
C/A |
rs78247072
|
+ |
CDS |
Nonsynonymous[Ala320Asp] |
1311
..
1311
|
T/G |
rs140926092
|
+ |
CDS |
Nonsynonymous[Ser345Ala] |
1340
..
1340
|
T/G |
rs111387495
|
+ |
CDS |
Nonsynonymous[Phe354Leu] |
1352
..
1352
|
C/T |
rs190519504
|
+ |
CDS |
Synonymous[Ala358Ala] |
1391
..
1391
|
C/T |
rs150201254
|
+ |
CDS |
Synonymous[Gly371Gly] |
1469
..
1469
|
C/T |
rs60653561
|
+ |
CDS |
Synonymous[Tyr397Tyr] |
1495
..
1495
|
A/G |
rs149541223
|
+ |
CDS |
Nonsynonymous[Gln406Arg] |
1530
..
1530
|
A/G |
rs58714624
|
+ |
CDS |
Nonsynonymous[Ile418Val] |
1560
..
1560
|
G/T |
rs199611065
|
+ |
CDS |
Nonsynonymous[Val428Leu] |
1582
..
1582
|
A/G |
rs138832424
|
+ |
CDS |
Nonsynonymous[Asn435Ser] |
1613
..
1613
|
C/T |
rs142839554
|
+ |
CDS |
Synonymous[Gly445Gly] |
1619
..
1619
|
G/T |
rs201954899
|
+ |
CDS |
Nonsynonymous[Gln447His] |
1637
..
1637
|
A/G |
rs140372775
|
+ |
CDS |
Synonymous[Gln453Gln] |
1686
^
1687
|
-/A |
rs35236945
|
+ |
CDS |
|
1826
..
1826
|
G/C |
rs115476500
|
+ |
CDS |
Synonymous[Leu516Leu] |
1846
..
1846
|
G/A |
rs201634523
|
+ |
CDS |
Nonsynonymous[Arg523Gln] |
1989
..
1989
|
C/A |
rs191113490
|
+ |
CDS |
Nonsynonymous[Gln571Lys] |
2023
..
2023
|
G/T |
rs182433621
|
+ |
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 |
|