Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
1
..
1
|
A/G |
rs11089977
|
+ |
5'UTR |
|
2
..
2
|
T/C |
rs11089978
|
+ |
5'UTR |
|
24
..
24
|
C/G |
rs146019843
|
+ |
CDS |
Nonsynonymous[Pro5Ala] |
78
..
78
|
C/G |
rs201722357
|
+ |
CDS |
Nonsynonymous[Leu23Val] |
80
..
80
|
G/A |
rs9619852
|
+ |
CDS |
Synonymous[Leu23Leu] |
91
..
91
|
C/T |
rs142180774
|
+ |
CDS |
Nonsynonymous[Pro27Leu] |
96
..
96
|
A/G |
rs151193387
|
+ |
CDS |
Nonsynonymous[Met29Val] |
100
..
100
|
C/T |
rs199900999
|
+ |
CDS |
Nonsynonymous[Ser30Phe] |
104
..
104
|
G/A |
rs201207008
|
+ |
CDS |
Synonymous[Ser31Ser] |
124
..
124
|
G/A |
rs139951133
|
+ |
CDS |
Nonsynonymous[Arg38His] |
158
..
158
|
C/T |
rs200837518
|
+ |
CDS |
Synonymous[Ile49Ile] |
237
..
237
|
G/A |
rs1320
|
+ |
CDS |
Nonsynonymous[Asp76Asn] |
241
..
241
|
A/G |
rs147568280
|
+ |
CDS |
Nonsynonymous[Lys77Arg] |
249
..
249
|
G/A |
rs62640870
|
+ |
CDS |
Nonsynonymous[Gly80Ser] |
250
..
250
|
G/A |
rs144188550
|
+ |
CDS |
Nonsynonymous[Gly80Asp] |
260
..
260
|
C/G |
rs145423292
|
+ |
CDS |
Synonymous[Val83Val] |
268
..
268
|
G/A |
rs149218137
|
+ |
CDS |
Nonsynonymous[Arg86His] |
285
..
285
|
G/A |
rs200057782
|
+ |
CDS |
Nonsynonymous[Asp92Asn] |
302
..
302
|
G/C |
rs188917401
|
+ |
CDS |
Nonsynonymous[Arg97Ser] |
307
..
307
|
A/T |
rs143361893
|
+ |
CDS |
Nonsynonymous[Tyr99Phe] |
316
..
316
|
T/A |
rs201276189
|
+ |
CDS |
Nonsynonymous[Ile102Asn] |
320
..
320
|
T/C |
rs148339904
|
+ |
CDS |
Synonymous[Ser103Ser] |
327
..
327
|
C/T |
rs17851581
|
+ |
CDS |
AA-STOP[Gln106*] |
347
..
347
|
G/A |
rs140610553
|
+ |
CDS |
Nonsynonymous[Met112Ile] |
366
..
366
|
G/T |
rs111340500
|
+ |
CDS |
Nonsynonymous[Ala119Ser] |
369
..
369
|
C/T |
rs201713481
|
+ |
CDS |
Nonsynonymous[Arg120Cys] |
370
..
370
|
G/A |
rs200943449
|
+ |
CDS |
Nonsynonymous[Arg120His] |
374
..
374
|
C/T |
rs5995719
|
+ |
CDS |
Synonymous[Ser121Ser] |
376
..
376
|
C/T |
rs11089979
|
+ |
CDS |
Nonsynonymous[Ser122Leu] |
405
..
405
|
G/A |
rs5995720
|
+ |
CDS |
Nonsynonymous[Glu132Lys] |
414
..
414
|
A/G |
rs200309974
|
+ |
CDS |
Nonsynonymous[Met135Val] |
448
..
448
|
G/A |
rs62640867
|
+ |
CDS |
Synonymous_atSTOP[*146*] |
464
..
464
|
A/G |
rs6001563
|
+ |
3'UTR |
|
475
..
475
|
C/T |
rs185445944
|
+ |
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 |
|