Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
71
..
71
|
G/T |
rs12756225
|
+ |
CDS |
Nonsynonymous[Ala6Ser] |
|
150
..
150
|
C/T |
rs112657356
|
+ |
CDS |
Nonsynonymous[Thr32Ile] |
|
246
..
246
|
C/T |
rs10732273
|
+ |
CDS |
Nonsynonymous[Pro64Leu] |
|
658
..
658
|
G/A |
rs74133667
|
+ |
CDS |
Synonymous[Pro201Pro] |
|
690
..
690
|
C/T |
rs114348822
|
+ |
CDS |
Nonsynonymous[Pro212Leu] |
|
695
..
695
|
C/T |
rs3747959
|
- |
CDS |
Nonsynonymous[His214Tyr] |
|
709
..
709
|
C/T |
rs12082445
|
+ |
CDS |
Synonymous[Pro218Pro] |
|
855
..
855
|
C/T |
rs61811250
|
+ |
CDS |
Nonsynonymous[Pro267Leu] |
|
879
..
879
|
G/A |
rs77981586
|
+ |
CDS |
Nonsynonymous[Arg275His] |
|
956
..
956
|
C/T |
rs79485039
|
+ |
CDS |
Nonsynonymous[Arg301Cys] |
|
1002
..
1002
|
G/A |
rs77550702
|
+ |
CDS |
Nonsynonymous[Arg316His] |
|
1032
..
1032
|
C/T |
rs77695365
|
+ |
CDS |
Nonsynonymous[Ser326Phe] |
|
1120
..
1120
|
T/C |
rs3747958
|
- |
CDS |
Synonymous[Thr355Thr] |
|
1191
..
1191
|
G/A |
rs111709771
|
+ |
CDS |
Nonsynonymous[Arg379His] |
|
1962
..
1962
|
C/T |
rs113108579
|
+ |
CDS |
Nonsynonymous[Ala636Val] |
|
2122
..
2122
|
G/A |
rs56104489
|
+ |
CDS |
Synonymous[Val689Val] |
|
2273
..
2273
|
C/T |
rs17302207
|
+ |
CDS |
Nonsynonymous[Arg740Trp] |
|
2304
..
2304
|
C/T |
rs79791475
|
+ |
CDS |
Nonsynonymous[Thr750Ile] |
|
2362
..
2362
|
T/C |
rs3795505
|
- |
CDS |
Synonymous[Ser769Ser] |
|
2433
..
2433
|
A/C |
rs114151345
|
+ |
CDS |
Nonsynonymous[Gln793Pro] |
|
2458
..
2458
|
T/G |
rs3795504
|
- |
CDS |
Nonsynonymous[Phe801Leu] |
|
2704
..
2704
|
C/T |
rs3795503
|
- |
CDS |
Synonymous[Asn883Asn] |
|
3287
..
3287
|
G/A |
rs2331995
|
+ |
CDS |
Nonsynonymous[Asp1078Asn] |
|
3357
..
3357
|
C/T |
rs116827264
|
+ |
CDS |
Nonsynonymous[Ser1101Leu] |
|
3426
^
3427
|
-/G |
rs35620345
|
+ |
CDS |
|
|
3614
..
3614
|
C/T |
rs75016885
|
+ |
CDS |
Synonymous[Leu1187Leu] |
|
3771
..
3771
|
G/A |
rs79222060
|
+ |
3'UTR |
|
|
3863
..
3863
|
G/A |
rs11588523
|
+ |
3'UTR |
|
|
3870
..
3870
|
T/C |
rs12023606
|
+ |
3'UTR |
|
|
3911
..
3911
|
G/A |
rs116509877
|
+ |
3'UTR |
|
|
3943
..
3943
|
G/A |
rs111967847
|
+ |
3'UTR |
|
|
4003
..
4003
|
C/G |
rs10157421
|
+ |
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
|
| Type |
Start |
End |
Strand |
| L2 |
2886 |
2968 |
- |
| AluSq2 |
3863 |
4143 |
+ |
|