Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
49
..
49
|
G/C |
rs2232155
|
+ |
5'UTR |
|
176
..
176
|
C/T |
rs2232156
|
+ |
5'UTR |
|
177
..
177
|
G/T |
rs2232157
|
+ |
5'UTR |
|
246
..
246
|
G/T |
rs112870214
|
+ |
5'UTR |
|
248
..
248
|
A/T |
rs139801070
|
+ |
5'UTR |
|
307
..
307
|
G/C |
rs2232158
|
+ |
5'UTR |
|
350
..
350
|
G/A |
rs2232159
|
+ |
5'UTR |
|
590
..
590
|
G/A |
rs142085794
|
+ |
CDS |
Nonsynonymous[Ala64Thr] |
681
^
682
|
-/GCC |
rs71292991
|
- |
CDS |
|
682
..
682
|
T/G |
rs202070404
|
+ |
CDS |
Synonymous[Pro94Pro] |
736
..
736
|
G/C |
rs150690083
|
+ |
CDS |
Synonymous[Pro112Pro] |
742
..
742
|
C/T |
rs201693580
|
+ |
CDS |
Synonymous[His114His] |
760
..
760
|
C/T |
rs138935038
|
+ |
CDS |
Synonymous[Ile120Ile] |
786
..
786
|
C/T |
rs149357966
|
+ |
CDS |
Nonsynonymous[Ala129Val] |
943
..
943
|
A/G |
rs113491382
|
+ |
CDS |
Synonymous[Leu181Leu] |
968
..
968
|
T/C |
rs200651234
|
+ |
CDS |
Nonsynonymous[Ser190Pro] |
1012
..
1012
|
C/T |
rs148076270
|
+ |
CDS |
Synonymous[Asn204Asn] |
1055
..
1055
|
T/C |
rs202087736
|
+ |
CDS |
Nonsynonymous[Phe219Leu] |
1057
..
1057
|
C/T |
rs2232160
|
+ |
CDS |
Synonymous[Phe219Phe] |
1183
..
1183
|
C/T |
rs201946862
|
+ |
CDS |
Synonymous[Gly261Gly] |
1197
..
1197
|
G/T |
rs199856015
|
+ |
CDS |
Nonsynonymous[Gly266Val] |
1267
..
1267
|
C/T |
rs201304517
|
+ |
CDS |
Synonymous[Tyr289Tyr] |
1292
..
1292
|
G/A |
rs56170585
|
+ |
CDS |
Nonsynonymous[Gly298Ser] |
1333
..
1333
|
C/T |
rs147264893
|
+ |
CDS |
Synonymous[Tyr311Tyr] |
1427
..
1427
|
C/A |
rs78712424
|
+ |
CDS |
Nonsynonymous[Leu343Met] |
1430
..
1430
|
G/A |
rs3750146
|
- |
CDS |
Nonsynonymous[Val344Met] |
1474
..
1474
|
C/T |
rs139681941
|
+ |
CDS |
Synonymous[Phe358Phe] |
1516
..
1516
|
C/T |
rs202150739
|
+ |
CDS |
Synonymous[Ala372Ala] |
1532
..
1532
|
G/A |
rs143614174
|
+ |
CDS |
Nonsynonymous[Asp378Asn] |
1641
..
1641
|
G/C |
rs201361207
|
+ |
CDS |
Nonsynonymous[Ser414Thr] |
1770
..
1770
|
C/G |
rs200235602
|
+ |
CDS |
Nonsynonymous[Ala457Gly] |
1789
..
1789
|
C/T |
rs150597135
|
+ |
CDS |
Synonymous[Ile463Ile] |
1849
..
1849
|
C/T |
rs139621623
|
+ |
CDS |
Synonymous[Asn483Asn] |
1893
..
1893
|
T/G |
rs114840294
|
+ |
CDS |
Nonsynonymous[Val498Gly] |
1903
..
1903
|
T/C |
rs200075522
|
+ |
CDS |
Synonymous[Phe501Phe] |
1927
..
1927
|
C/T |
rs149857880
|
+ |
CDS |
Synonymous[Ala509Ala] |
2003
..
2003
|
A/G |
rs145464476
|
+ |
CDS |
Nonsynonymous[Met535Val] |
2070
..
2070
|
T/C |
rs202129840
|
+ |
CDS |
Nonsynonymous[Phe557Ser] |
2088
..
2088
|
G/A |
rs139043437
|
+ |
CDS |
Nonsynonymous[Arg563Gln] |
2102
..
2102
|
C/T |
rs147921120
|
+ |
CDS |
Nonsynonymous[Arg568Cys] |
2140
..
2140
|
C/T |
rs144052869
|
+ |
CDS |
Synonymous[Ile580Ile] |
2152
..
2152
|
C/T |
rs2232161
|
+ |
CDS |
Synonymous[His584His] |
2153
..
2153
|
C/T |
rs141366978
|
+ |
CDS |
Nonsynonymous[Leu585Phe] |
2160
..
2160
|
C/A |
rs200835205
|
+ |
CDS |
Nonsynonymous[Ala587Glu] |
2171
..
2171
|
G/A |
rs143330366
|
+ |
CDS |
Nonsynonymous[Ala591Thr] |
2242
..
2242
|
G/A |
rs151338078
|
+ |
CDS |
Synonymous[Val614Val] |
2286
..
2286
|
A/G |
rs117293522
|
+ |
CDS |
Nonsynonymous[Asn629Ser] |
2413
..
2413
|
T/A |
rs2232162
|
+ |
3'UTR |
|
2443
..
2443
|
G/A |
rs2232163
|
+ |
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 |
|