Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
290
..
290
|
T/C |
rs11575965
|
+ |
5'UTR |
|
|
651
..
651
|
A/G |
rs79193223
|
+ |
CDS |
Nonsynonymous[Glu94Gly] |
|
817
..
817
|
G/A |
rs17097300
|
+ |
CDS |
Synonymous[Glu149Glu] |
|
932
..
932
|
G/T |
rs112186927
|
+ |
CDS |
Nonsynonymous[Gly188Cys] |
|
1223
..
1223
|
G/T |
rs79883194
|
+ |
CDS |
Nonsynonymous[Asp285Tyr] |
|
1379
..
1379
|
G/A |
rs112978142
|
+ |
CDS |
Nonsynonymous[Val337Ile] |
|
1782
..
1782
|
T/C |
rs114326665
|
+ |
CDS |
Nonsynonymous[Leu471Pro] |
|
2046
..
2046
|
C/A |
rs78612001
|
+ |
CDS |
Nonsynonymous[Ala559Glu] |
|
2332
..
2332
|
C/T |
rs13360857
|
+ |
CDS |
Synonymous[Leu654Leu] |
|
2455
..
2455
|
A/G |
rs113107293
|
+ |
CDS |
Synonymous[Val695Val] |
|
2483
..
2483
|
C/A |
rs73280906
|
+ |
CDS |
Nonsynonymous[Leu705Met] |
|
2641
..
2641
|
T/C |
rs116611363
|
+ |
CDS |
Synonymous[Val757Val] |
|
2644
..
2644
|
C/T |
rs115990854
|
+ |
CDS |
Synonymous[Ser758Ser] |
|
2927
..
2927
|
C/T |
rs76825883
|
+ |
CDS |
Nonsynonymous[Arg853Trp] |
|
2939
^
2940
|
-/G |
rs34260612
|
+ |
CDS |
|
|
2973
^
2974
|
-/CTAT |
rs72463976
|
+ |
CDS |
|
|
2999
..
3002
|
ATCT/- |
rs71692039
|
+ |
CDS |
|
|
3009
..
3016
|
CTATCTAT/- |
rs71668367
|
+ |
CDS |
|
|
3013
^
3014
|
-/CTAT |
rs72479403
|
+ |
CDS |
|
|
3020
^
3021
|
-/CTAT |
rs3074541
|
+ |
CDS |
|
|
3021
..
3021
|
T/C |
rs79220404
|
+ |
CDS |
Nonsynonymous[Leu884Ser] |
|
3022
..
3022
|
A/T |
rs78298614
|
+ |
CDS |
Nonsynonymous[Leu884Phe] |
|
3312
..
3312
|
C/A |
rs79404417
|
+ |
3'UTR |
|
| Microsatellite (Short Tandem Repeat, STR) |
| Location |
Variation |
Strand |
|
2969..3020
|
(ctat)13 |
+ |
| Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) |
| No data available |
|
Repeat
|
| Type |
Start |
End |
Strand |
| FRAM |
2811 |
2958 |
- |
| AluSp |
3044 |
3313 |
+ |
|