Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
93
..
93
|
T/C |
rs139060150
|
+ |
5'UTR |
|
151
..
151
|
G/A |
rs146524997
|
+ |
5'UTR |
|
155
..
155
|
A/G |
rs139956440
|
+ |
5'UTR |
|
175
..
175
|
A/G |
rs147174162
|
+ |
5'UTR |
|
202
..
202
|
A/G |
rs57213993
|
+ |
5'UTR |
|
218
..
218
|
T/G |
rs139374750
|
+ |
5'UTR |
|
236
..
236
|
C/A |
rs201204792
|
+ |
5'UTR |
|
242
..
242
|
A/G |
rs12094164
|
+ |
5'UTR |
|
316
..
316
|
G/A |
rs60174212
|
+ |
5'UTR |
|
329
..
329
|
C/T |
rs192344465
|
+ |
5'UTR |
|
396
..
396
|
A/G |
rs142734259
|
+ |
5'UTR |
|
538
..
538
|
T/C |
rs200450056
|
+ |
CDS |
Nonsynonymous[Met1Thr] |
681
..
681
|
A/G |
rs201209049
|
+ |
CDS |
Nonsynonymous[Met49Val] |
682
..
682
|
T/C |
rs34958390
|
+ |
CDS |
Nonsynonymous[Met49Thr] |
686
..
686
|
C/T |
rs184508081
|
+ |
CDS |
Synonymous[Asp50Asp] |
708
..
708
|
T/G |
rs145929460
|
+ |
CDS |
Nonsynonymous[Tyr58Asp] |
753
..
753
|
C/A |
rs143433419
|
+ |
CDS |
Nonsynonymous[Leu73Ile] |
775
..
775
|
C/T |
rs201652870
|
+ |
CDS |
Nonsynonymous[Thr80Ile] |
914
..
914
|
C/T |
rs139169028
|
+ |
CDS |
Synonymous[Thr126Thr] |
915
..
915
|
G/A |
rs147411465
|
+ |
CDS |
Nonsynonymous[Asp127Asn] |
928
..
928
|
G/A |
rs200988375
|
+ |
CDS |
Nonsynonymous[Ser131Asn] |
950
..
950
|
T/C |
rs149158002
|
+ |
CDS |
Synonymous[Thr138Thr] |
1047
..
1047
|
C/T |
rs147866762
|
+ |
CDS |
Synonymous[Leu171Leu] |
1142
..
1142
|
C/G |
rs77774556
|
+ |
CDS |
Synonymous[Thr202Thr] |
1165
..
1165
|
G/A |
rs150237696
|
+ |
CDS |
Nonsynonymous[Arg210Lys] |
1218
..
1218
|
C/G |
rs139123420
|
+ |
CDS |
Nonsynonymous[Arg228Gly] |
1232
..
1232
|
G/A |
rs137990490
|
+ |
CDS |
Synonymous[Ala232Ala] |
1268
..
1268
|
A/G |
rs181927079
|
+ |
CDS |
Synonymous[Ala244Ala] |
1324
..
1324
|
T/G |
rs145940629
|
+ |
CDS |
Nonsynonymous[Ile263Arg] |
1380
..
1380
|
A/G |
rs189038502
|
+ |
CDS |
Nonsynonymous[Ile282Val] |
1463
..
1463
|
C/T |
rs200612300
|
+ |
CDS |
Synonymous[Ser309Ser] |
1555
..
1555
|
A/G |
rs144643907
|
+ |
CDS |
Nonsynonymous[Gln340Arg] |
1578
..
1578
|
C/T |
rs71635518
|
+ |
CDS |
Nonsynonymous[Pro348Ser] |
1586
..
1586
|
C/T |
rs149959195
|
+ |
CDS |
Synonymous[Pro350Pro] |
1604
..
1604
|
T/C |
rs139788261
|
+ |
CDS |
Synonymous[Ile356Ile] |
1633
..
1633
|
G/A |
rs200167069
|
+ |
CDS |
Nonsynonymous[Gly366Asp] |
1675
..
1675
|
G/T |
rs144674686
|
+ |
CDS |
Nonsynonymous[Arg380Leu] |
1687
..
1687
|
C/T |
rs3753952
|
+ |
CDS |
Nonsynonymous[Pro384Leu] |
1726
^
1727
|
-/C |
rs35376905
|
+ |
CDS |
|
1744
..
1744
|
C/T |
rs145337502
|
+ |
CDS |
Nonsynonymous[Thr403Ile] |
1785
..
1785
|
A/C |
rs71635519
|
+ |
CDS |
Nonsynonymous[Thr417Pro] |
1869
^
1870
|
-/C |
rs35239191
|
+ |
CDS |
|
1895
..
1895
|
A/G |
rs200272887
|
+ |
CDS |
Synonymous[Glu453Glu] |
1896
..
1896
|
C/T |
rs201133949
|
+ |
CDS |
Nonsynonymous[Pro454Ser] |
1897
..
1897
|
C/G |
rs6674599
|
+ |
CDS |
Nonsynonymous[Pro454Arg] |
1915
..
1915
|
A/G |
rs148338670
|
+ |
CDS |
Nonsynonymous[Lys460Arg] |
2075
..
2075
|
G/A |
rs12137829
|
+ |
CDS |
Synonymous[Glu513Glu] |
2099
..
2099
|
A/T |
rs140662328
|
+ |
CDS |
Nonsynonymous[Glu521Asp] |
2114
..
2114
|
C/T |
rs141562761
|
+ |
CDS |
Synonymous[Pro526Pro] |
2146
..
2146
|
A/G |
rs150711965
|
+ |
CDS |
Nonsynonymous[Asn537Ser] |
2211
..
2211
|
T/C |
rs144044558
|
+ |
CDS |
Nonsynonymous[Tyr559His] |
2216
..
2216
|
T/A |
rs185578027
|
+ |
CDS |
Nonsynonymous[Asp560Glu] |
2332
..
2332
|
A/C |
rs144389476
|
+ |
CDS |
Nonsynonymous[Glu599Ala] |
2391
..
2391
|
A/G |
rs191650745
|
+ |
CDS |
Nonsynonymous[Met619Val] |
2453
..
2453
|
T/A |
rs147490223
|
+ |
CDS |
Nonsynonymous[Asp639Glu] |
2496
..
2496
|
C/T |
rs199622691
|
+ |
CDS |
Nonsynonymous[Arg654Trp] |
2497
..
2497
|
G/A |
rs151025521
|
+ |
CDS |
Nonsynonymous[Arg654Gln] |
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 |
|