Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
29
..
29
|
C/A |
rs72790062
|
+ |
5'UTR |
|
|
348
..
348
|
G/A |
rs61279034
|
+ |
CDS |
Synonymous[Glu78Glu] |
|
476
..
476
|
T/A |
rs115237553
|
+ |
CDS |
Nonsynonymous[Val121Glu] |
|
696
..
696
|
G/C |
rs2075661
|
+ |
CDS |
Synonymous[Ala194Ala] |
|
769
..
769
|
G/C |
rs112156044
|
+ |
CDS |
Nonsynonymous[Gly219Arg] |
|
780
..
780
|
A/G |
rs115808055
|
+ |
CDS |
Synonymous[Pro222Pro] |
|
1257
..
1257
|
C/T |
rs60063068
|
+ |
CDS |
Synonymous[Gly381Gly] |
|
1706
..
1706
|
A/G |
rs76333877
|
+ |
CDS |
Nonsynonymous[Glu531Gly] |
|
2142
..
2142
|
C/T |
rs76259032
|
+ |
CDS |
Synonymous[Phe676Phe] |
|
2202
..
2202
|
T/C |
rs2530209
|
- |
CDS |
Synonymous[Ser696Ser] |
|
2226
..
2226
|
C/T |
rs1423148
|
+ |
CDS |
Synonymous[Phe704Phe] |
|
2414
..
2414
|
G/C |
rs2530208
|
- |
CDS |
Nonsynonymous[Arg767Pro] |
|
2416
..
2416
|
A/G |
rs2547556
|
+ |
CDS |
Nonsynonymous[Ser768Gly] |
|
2494
..
2494
|
G/A |
rs77463374
|
+ |
CDS |
Nonsynonymous[Val794Met] |
|
2746
..
2746
|
G/A |
rs114669158
|
+ |
CDS |
Nonsynonymous[Ala878Thr] |
|
2757
..
2757
|
A/G |
rs2233612
|
+ |
CDS |
Synonymous[Gly881Gly] |
|
2779
..
2779
|
G/A |
rs116366286
|
+ |
CDS |
Nonsynonymous[Val889Met] |
|
2792
..
2792
|
G/A |
rs61749029
|
+ |
CDS |
Nonsynonymous[Arg893His] |
|
3048
..
3048
|
A/G |
rs76613492
|
+ |
3'UTR |
|
|
3094
..
3094
|
C/T |
rs115159796
|
+ |
3'UTR |
|
|
3355
..
3355
|
G/C |
rs4912608
|
+ |
3'UTR |
|
|
3612
..
3612
|
C/T |
rs113814137
|
+ |
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 |
|