Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
51
..
51
|
C/T |
rs190234834
|
- |
5'UTR |
|
57
..
57
|
G/A |
rs10941841
|
- |
5'UTR |
|
92
..
92
|
A/G |
rs74334699
|
- |
5'UTR |
|
149
..
149
|
G/A |
rs140678225
|
- |
5'UTR |
|
348
..
348
|
A/C |
rs76342895
|
- |
5'UTR |
|
474
..
474
|
T/C |
rs192286106
|
- |
5'UTR |
|
561
..
561
|
C/A |
rs199740391
|
- |
5'UTR |
|
615
..
615
|
A/G |
rs76617273
|
- |
5'UTR |
|
687
..
687
|
T/G |
rs115113444
|
- |
5'UTR |
|
706
..
706
|
G/T |
rs75155184
|
- |
5'UTR |
|
708
..
708
|
G/A |
rs77404676
|
- |
5'UTR |
|
747
..
747
|
G/T |
rs188257205
|
- |
5'UTR |
|
829
..
829
|
C/T |
rs184401628
|
- |
5'UTR |
|
885
..
885
|
A/G |
rs181353664
|
- |
5'UTR |
|
938
..
938
|
C/T |
rs989316
|
+ |
5'UTR |
|
1007
..
1007
|
A/G |
rs148353712
|
- |
CDS |
Synonymous[Thr6Thr] |
1018
..
1018
|
G/C |
rs189671590
|
- |
CDS |
Nonsynonymous[Cys10Ser] |
1080
..
1080
|
A/G |
rs199518517
|
- |
CDS |
Nonsynonymous[Ile31Val] |
1102
..
1102
|
C/T |
rs143317499
|
- |
CDS |
Nonsynonymous[Thr38Ile] |
1142
..
1142
|
C/T |
rs200906154
|
- |
CDS |
Synonymous[Pro51Pro] |
1263
^
1264
|
-/C |
rs35043931
|
- |
CDS |
|
1346
..
1346
|
G/A |
rs200449123
|
- |
CDS |
Synonymous[Glu119Glu] |
1454
..
1454
|
C/T |
rs148634634
|
- |
CDS |
Synonymous[Asn155Asn] |
1516
..
1516
|
C/T |
rs147043474
|
- |
CDS |
Nonsynonymous[Thr176Ile] |
1530
..
1530
|
G/A |
rs200034491
|
- |
CDS |
Nonsynonymous[Val181Met] |
1571
..
1571
|
C/T |
rs147239335
|
- |
CDS |
Synonymous[Ser194Ser] |
1575
..
1575
|
C/T |
rs200942294
|
- |
CDS |
Nonsynonymous[Arg196Trp] |
1581
..
1581
|
G/A |
rs184208296
|
- |
CDS |
Nonsynonymous[Val198Ile] |
1595
..
1595
|
C/T |
rs201475677
|
- |
CDS |
Synonymous[Leu202Leu] |
1598
..
1598
|
G/A |
rs12187552
|
- |
CDS |
Synonymous[Gln203Gln] |
1652
..
1652
|
A/T |
rs140543077
|
- |
CDS |
Nonsynonymous[Leu221Phe] |
1665
..
1665
|
A/G |
rs17856909
|
- |
CDS |
Nonsynonymous[Arg226Gly] |
1711
..
1711
|
T/C |
rs201835877
|
- |
CDS |
Nonsynonymous[Met241Thr] |
1741
..
1741
|
C/A |
rs201455871
|
- |
CDS |
Nonsynonymous[Ser251Tyr] |
1782
..
1782
|
C/A |
rs17852885
|
- |
CDS |
Nonsynonymous[Pro265Thr] |
1892
..
1892
|
T/C |
rs146786623
|
- |
CDS |
Synonymous[Ala301Ala] |
1908
..
1908
|
A/G |
rs145956610
|
- |
CDS |
Nonsynonymous[Ile307Val] |
1980
..
1980
|
T/C |
rs17285716
|
- |
CDS |
Synonymous[Leu331Leu] |
2005
..
2005
|
A/G |
rs140857588
|
- |
CDS |
Nonsynonymous[Lys339Arg] |
2026
..
2026
|
A/C |
rs150989071
|
- |
CDS |
Nonsynonymous[Asn346Thr] |
2033
..
2033
|
A/G |
rs142596747
|
- |
CDS |
Synonymous[Glu348Glu] |
2059
..
2059
|
G/A |
rs148450624
|
- |
CDS |
Nonsynonymous[Arg357His] |
2094
..
2094
|
A/G |
rs145527725
|
- |
CDS |
Nonsynonymous[Met369Val] |
2098
..
2098
|
T/C |
rs113557416
|
- |
CDS |
Nonsynonymous[Leu370Pro] |
2142
..
2142
|
A/G |
rs141062529
|
- |
CDS |
Nonsynonymous[Met385Val] |
2147
..
2147
|
T/G |
rs78589740
|
- |
CDS |
Synonymous[Pro386Pro] |
2168
..
2168
|
C/T |
rs140338437
|
- |
CDS |
Synonymous[Tyr393Tyr] |
2178
..
2178
|
A/C |
rs189886913
|
- |
CDS |
Nonsynonymous[Lys397Gln] |
2189
..
2189
|
C/T |
rs61316196
|
- |
CDS |
Synonymous[Thr400Thr] |
2197
..
2197
|
G/A |
rs144345399
|
- |
CDS |
Nonsynonymous[Gly403Asp] |
2227
..
2227
|
C/T |
rs17856908
|
- |
CDS |
Nonsynonymous[Thr413Ile] |
2253
..
2253
|
A/C |
rs143321024
|
- |
CDS |
Nonsynonymous[Asn422His] |
2260
..
2260
|
A/G |
rs139958887
|
- |
CDS |
Nonsynonymous[Asn424Ser] |
2288
..
2288
|
T/C |
rs150671146
|
- |
CDS |
Synonymous[Ile433Ile] |
2311
..
2311
|
G/T |
rs141966139
|
- |
CDS |
Nonsynonymous[Arg441Met] |
2327
..
2327
|
C/T |
rs148135067
|
- |
CDS |
Synonymous[Leu446Leu] |
2328
..
2328
|
G/A |
rs145743816
|
- |
CDS |
Nonsynonymous[Asp447Asn] |
2406
..
2406
|
A/C |
rs142033128
|
- |
CDS |
Nonsynonymous[Thr473Pro] |
2431
..
2431
|
T/C |
rs201826527
|
- |
CDS |
Nonsynonymous[Val481Ala] |
2440
..
2440
|
A/G |
rs111945633
|
- |
CDS |
Nonsynonymous[Asn484Ser] |
2503
..
2503
|
T/C |
rs138813470
|
- |
CDS |
Nonsynonymous[Val505Ala] |
2542
..
2542
|
C/A |
rs200523395
|
- |
CDS |
Nonsynonymous[Ala518Asp] |
2576
..
2576
|
A/G |
rs17852886
|
- |
CDS |
Synonymous[Glu529Glu] |
2674
..
2674
|
A/T |
rs144956131
|
- |
CDS |
Nonsynonymous[Asp562Val] |
2693
..
2693
|
T/C |
rs149115290
|
- |
CDS |
Synonymous[Ile568Ile] |
2697
..
2697
|
A/G |
rs145124695
|
- |
CDS |
Nonsynonymous[Ile570Val] |
2745
..
2745
|
A/C |
rs200903562
|
- |
CDS |
Nonsynonymous[Ile586Leu] |
2762
..
2762
|
C/T |
rs150370418
|
- |
CDS |
Synonymous[Cys591Cys] |
2796
..
2796
|
G/A |
rs201132238
|
- |
CDS |
Nonsynonymous[Glu603Lys] |
2827
..
2827
|
C/A |
rs199814117
|
- |
CDS |
Nonsynonymous[Thr613Lys] |
2830
..
2830
|
G/T |
rs148256786
|
- |
CDS |
Nonsynonymous[Gly614Val] |
2833
..
2833
|
C/T |
rs146116673
|
- |
CDS |
Nonsynonymous[Ala615Val] |
2870
..
2870
|
G/A |
rs112815048
|
- |
CDS |
Synonymous[Leu627Leu] |
2893
..
2893
|
C/A |
rs147821413
|
- |
CDS |
Nonsynonymous[Thr635Asn] |
2907
..
2907
|
A/G |
rs200080046
|
- |
CDS |
Nonsynonymous[Lys640Glu] |
2944
..
2944
|
G/A |
rs144313870
|
- |
CDS |
Nonsynonymous[Arg652Gln] |
2995
..
2995
|
A/G |
rs17852884
|
- |
CDS |
Nonsynonymous[Glu669Gly] |
3052
..
3052
|
G/A |
rs140353037
|
- |
CDS |
Nonsynonymous[Arg688Gln] |
3098
..
3098
|
A/G |
rs149332094
|
- |
CDS |
Synonymous[Thr703Thr] |
3101
..
3101
|
A/G |
rs181419243
|
- |
CDS |
Synonymous[Ser704Ser] |
3119
..
3119
|
A/G |
rs201249378
|
- |
CDS |
Nonsynonymous[Ile710Met] |
3174
..
3174
|
G/A |
rs138129088
|
- |
CDS |
Nonsynonymous[Val729Ile] |
3244
..
3244
|
C/T |
rs148398791
|
- |
CDS |
Nonsynonymous[Ser752Leu] |
3259
..
3259
|
C/T |
rs201996992
|
- |
CDS |
Nonsynonymous[Thr757Met] |
3331
..
3331
|
A/G |
rs144407594
|
- |
CDS |
Nonsynonymous[Tyr781Cys] |
3342
..
3342
|
G/C |
rs149640304
|
- |
CDS |
Nonsynonymous[Glu785Gln] |
3539
..
3539
|
G/A |
rs76978983
|
- |
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 |
AluYh3 |
471 |
614 |
- |
L2 |
615 |
739 |
- |
|