Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
20
..
20
|
G/T |
rs202194538
|
- |
CDS |
Nonsynonymous[Val4Leu] |
22
..
22
|
G/C |
rs141373682
|
- |
CDS |
Synonymous[Val4Val] |
76
..
76
|
C/T |
rs151148238
|
- |
CDS |
Synonymous[Pro22Pro] |
91
..
91
|
A/G |
rs112554902
|
- |
CDS |
Synonymous[Arg27Arg] |
112
..
112
|
C/G |
rs146573280
|
- |
CDS |
Synonymous[Pro34Pro] |
149
..
149
|
C/T |
rs111033538
|
+ |
CDS |
AA-STOP[Arg47*] |
176
..
176
|
C/T |
rs187576440
|
- |
CDS |
Nonsynonymous[Pro56Ser] |
188
..
188
|
A/C |
rs147401037
|
- |
CDS |
Nonsynonymous[Lys60Gln] |
236
..
236
|
G/A |
rs199767486
|
- |
CDS |
Nonsynonymous[Ala76Thr] |
237
..
237
|
C/T |
rs11541017
|
+ |
CDS |
Nonsynonymous[Ala76Val] |
281
..
281
|
C/A |
rs200681141
|
- |
CDS |
Nonsynonymous[Leu91Met] |
321
..
321
|
T/G |
rs6748672
|
- |
CDS |
Nonsynonymous[Leu104Arg] |
322
..
322
|
T/G |
rs142838031
|
- |
CDS |
Synonymous[Leu104Leu] |
437
..
437
|
C/T |
rs138436961
|
- |
CDS |
Nonsynonymous[Arg143Cys] |
438
..
438
|
G/A |
rs115175255
|
- |
CDS |
Nonsynonymous[Arg143His] |
450
..
450
|
A/G |
rs75608389
|
- |
CDS |
Nonsynonymous[Glu147Gly] |
530
..
530
|
G/C |
rs200334627
|
- |
CDS |
Nonsynonymous[Glu174Gln] |
592
..
592
|
A/C |
rs77264779
|
- |
3'UTR |
|
687
..
687
|
A/G |
rs11686313
|
- |
3'UTR |
|
803
..
803
|
G/A |
rs72903553
|
- |
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 |
|