Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
5
..
5
|
A/G |
rs3824593
|
- |
5'UTR |
|
|
30
..
30
|
A/C |
rs7919803
|
+ |
5'UTR |
|
|
31
..
31
|
C/T |
rs7907981
|
+ |
5'UTR |
|
|
41
..
41
|
C/A |
rs111575548
|
+ |
5'UTR |
|
|
46
..
46
|
G/T |
rs7907988
|
+ |
5'UTR |
|
|
378
..
378
|
C/T |
rs11551471
|
+ |
CDS |
Synonymous[Tyr107Tyr] |
|
534
..
534
|
G/A |
rs56204835
|
+ |
CDS |
Synonymous[Pro159Pro] |
|
558
..
558
|
G/C |
rs28941470
|
+ |
CDS |
Nonsynonymous[Glu167Asp] |
|
952
..
952
|
A/- |
rs35625565
|
+ |
CDS |
|
|
1067
..
1067
|
C/A |
rs36121140
|
+ |
CDS |
Nonsynonymous[Thr337Lys] |
|
1204
..
1204
|
C/T |
rs117134003
|
+ |
CDS |
Nonsynonymous[Arg383Cys] |
|
1204
^
1205
|
-/T |
rs35010168
|
+ |
CDS |
|
|
1421
..
1421
|
G/T |
rs117775503
|
+ |
CDS |
Nonsynonymous[Cys455Phe] |
|
1461
..
1461
|
T/C |
rs41282222
|
+ |
CDS |
Synonymous[Tyr468Tyr] |
|
1545
..
1545
|
C/T |
rs74126920
|
+ |
CDS |
Synonymous[His496His] |
|
1839
..
1839
|
T/C |
rs1981296
|
- |
CDS |
Synonymous[Ile594Ile] |
|
1873
..
1873
|
G/T |
rs35413630
|
+ |
CDS |
Nonsynonymous[Asp606Tyr] |
|
1885
..
1885
|
G/A |
rs35571315
|
+ |
CDS |
Nonsynonymous[Val610Ile] |
|
1915
..
1915
|
C/G |
rs3802526
|
- |
CDS |
Nonsynonymous[Pro620Ala] |
|
2031
..
2031
|
T/A |
rs79671284
|
+ |
CDS |
Nonsynonymous[Phe658Leu] |
|
2051
..
2051
|
C/A |
rs112048111
|
+ |
CDS |
Nonsynonymous[Ser665Tyr] |
|
2117
..
2117
|
A/G |
rs41282224
|
+ |
CDS |
Nonsynonymous[Tyr687Cys] |
|
2177
..
2177
|
A/T |
rs34635408
|
+ |
CDS |
Nonsynonymous[His707Leu] |
|
2196
..
2196
|
G/A |
rs41282228
|
+ |
CDS |
Synonymous[Gln713Gln] |
|
2226
..
2226
|
G/A |
rs78145663
|
+ |
CDS |
Synonymous[Pro723Pro] |
|
2267
..
2267
|
G/A |
rs36099197
|
+ |
CDS |
Nonsynonymous[Arg737Gln] |
|
2355
..
2355
|
T/C |
rs115175971
|
+ |
CDS |
Synonymous[Val766Val] |
|
2676
..
2676
|
C/T |
rs10741130
|
+ |
CDS |
Synonymous[Thr873Thr] |
|
2726
..
2726
|
C/T |
rs10764686
|
+ |
3'UTR |
|
|
2811
..
2811
|
A/G |
rs10764687
|
+ |
3'UTR |
|
|
2925
..
2925
|
C/T |
rs1338
|
- |
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 |
|