Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
204
..
204
|
G/T |
rs2015825
|
+ |
CDS |
Synonymous[Val68Val] |
|
343
^
344
|
-/C |
rs11386689
|
+ |
CDS |
|
|
1213
..
1213
|
G/C |
rs17208397
|
+ |
CDS |
Nonsynonymous[Val405Leu] |
|
1453
..
1453
|
G/C |
rs35892780
|
+ |
CDS |
Nonsynonymous[Gly485Arg] |
|
1486
..
1486
|
C/T |
rs111954647
|
+ |
CDS |
Synonymous[Leu496Leu] |
|
1566
..
1566
|
C/T |
rs3749766
|
- |
CDS |
Synonymous[His522His] |
|
1646
..
1646
|
G/A |
rs115850576
|
+ |
CDS |
Nonsynonymous[Arg549His] |
|
1843
..
1843
|
G/A |
rs116279995
|
+ |
CDS |
Nonsynonymous[Gly615Arg] |
|
2386
..
2386
|
G/A |
rs72790042
|
+ |
CDS |
Nonsynonymous[Val796Ile] |
|
2620
..
2620
|
G/A |
rs114669158
|
+ |
CDS |
Nonsynonymous[Ala874Thr] |
|
2631
..
2631
|
A/G |
rs2233612
|
+ |
CDS |
Synonymous[Gly877Gly] |
|
2653
..
2653
|
G/A |
rs116366286
|
+ |
CDS |
Nonsynonymous[Val885Met] |
|
2666
..
2666
|
G/A |
rs61749029
|
+ |
CDS |
Nonsynonymous[Arg889His] |
|
2820
..
2820
|
G/A |
rs2233613
|
+ |
3'UTR |
|
|
2925
..
2925
|
G/A |
rs76613492
|
+ |
3'UTR |
|
|
2981
..
2981
|
T/C |
rs115159796
|
+ |
3'UTR |
|
|
3245
..
3245
|
G/C |
rs4912608
|
+ |
3'UTR |
|
|
3503
..
3503
|
T/C |
rs113814137
|
+ |
3'UTR |
|
|
3811
..
3811
|
G/A |
rs111365449
|
+ |
3'UTR |
|
|
4002
..
4002
|
A/G |
rs78180647
|
+ |
3'UTR |
|
|
4531
..
4531
|
C/T |
rs112402554
|
+ |
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 |
|