Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
7
..
7
|
T/C |
rs2240146
|
- |
5'UTR |
|
|
234
..
234
|
G/T |
rs111402916
|
+ |
CDS |
Synonymous[Arg11Arg] |
|
286
..
286
|
C/T |
rs11551732
|
+ |
CDS |
Nonsynonymous[Arg29Cys] |
|
615
..
615
|
C/G |
rs74706545
|
+ |
CDS |
Synonymous[Ala138Ala] |
|
997
..
997
|
G/T |
rs112146559
|
+ |
CDS |
Nonsynonymous[Ala266Ser] |
|
1038
..
1038
|
T/C |
rs113566023
|
+ |
CDS |
Synonymous[Ser279Ser] |
|
1132
..
1132
|
A/G |
rs79975303
|
+ |
CDS |
Nonsynonymous[Ser311Gly] |
|
1192
..
1192
|
C/T |
rs79168841
|
+ |
CDS |
Nonsynonymous[Pro331Ser] |
|
1335
..
1335
|
A/C |
rs117890014
|
+ |
CDS |
Synonymous[Pro378Pro] |
|
1505
..
1505
|
G/C |
rs114899013
|
+ |
CDS |
Nonsynonymous[Ser435Thr] |
|
1736
..
1736
|
A/C |
rs75813313
|
+ |
CDS |
Nonsynonymous[Gln512Pro] |
|
2014
..
2014
|
C/T |
rs115253860
|
+ |
CDS |
Nonsynonymous[Arg605Trp] |
|
2154
..
2154
|
C/T |
rs79910471
|
+ |
CDS |
Synonymous[Thr651Thr] |
|
2246
..
2246
|
G/A |
rs116990973
|
+ |
CDS |
Nonsynonymous[Arg682His] |
|
2289
..
2289
|
A/G |
rs75499358
|
+ |
CDS |
Synonymous[Thr696Thr] |
|
2319
..
2319
|
C/T |
rs2240142
|
- |
CDS |
Synonymous[Ser706Ser] |
|
2351
..
2351
|
C/A |
rs116499978
|
+ |
CDS |
Nonsynonymous[Thr717Lys] |
|
2497
..
2497
|
C/T |
rs113244516
|
+ |
CDS |
Nonsynonymous[Arg766Trp] |
|
2562
..
2562
|
G/A |
rs2240141
|
- |
CDS |
Synonymous[Lys787Lys] |
|
2593
..
2593
|
C/T |
rs111652485
|
+ |
CDS |
Nonsynonymous[Arg798Cys] |
|
2611
..
2611
|
A/C |
rs2240140
|
- |
CDS |
Nonsynonymous[Thr804Pro] |
|
2768
..
2768
|
C/G |
rs12185191
|
+ |
CDS |
Nonsynonymous[Thr856Arg] |
|
2797
..
2797
|
A/G |
rs113836515
|
+ |
CDS |
Nonsynonymous[Thr866Ala] |
|
2849
..
2849
|
C/G |
rs17136053
|
+ |
CDS |
Nonsynonymous[Ser883Cys] |
|
2963
..
2963
|
C/A |
rs77172395
|
+ |
CDS |
Nonsynonymous[Ala921Glu] |
|
3040
..
3040
|
C/T |
rs34275340
|
- |
CDS |
Nonsynonymous[Pro947Ser] |
|
3127
^
3128
|
-/G |
rs34156460
|
+ |
CDS |
|
|
3145
..
3145
|
G/A |
rs77942674
|
+ |
CDS |
Nonsynonymous[Glu982Lys] |
|
3150
..
3150
|
A/C |
rs77210367
|
+ |
CDS |
Synonymous[Thr983Thr] |
|
3308
..
3308
|
G/C |
rs72768765
|
+ |
CDS |
Nonsynonymous[Cys1036Ser] |
|
3624
..
3624
|
C/G |
rs72768766
|
+ |
CDS |
Nonsynonymous[Asp1141Glu] |
|
3649
..
3649
|
T/C |
rs35402245
|
- |
CDS |
Nonsynonymous[Ser1150Pro] |
|
3746
..
3746
|
G/T |
rs117384853
|
+ |
CDS |
Nonsynonymous[Arg1182Ile] |
|
3809
..
3809
|
A/T |
rs9921332
|
+ |
CDS |
Nonsynonymous[Lys1203Ile] |
|
3834
..
3834
|
A/G |
rs3094775
|
- |
CDS |
Synonymous[Arg1211Arg] |
|
4133
..
4133
|
C/T |
rs75894599
|
+ |
CDS |
Nonsynonymous[Ser1311Phe] |
|
4345
..
4345
|
A/G |
rs112339953
|
+ |
CDS |
Nonsynonymous[Ser1382Gly] |
|
4362
..
4362
|
C/T |
rs78949014
|
+ |
CDS |
Synonymous[Ser1387Ser] |
|
4699
..
4699
|
C/G |
rs113263000
|
+ |
CDS |
Nonsynonymous[Pro1500Ala] |
|
4883
..
4883
|
C/T |
rs28591365
|
+ |
CDS |
Nonsynonymous[Ser1561Phe] |
|
4909
..
4909
|
C/A |
rs3094773
|
- |
CDS |
Synonymous[Arg1570Arg] |
|
5318
..
5318
|
G/A |
rs79121344
|
+ |
CDS |
Nonsynonymous[Arg1706Lys] |
|
5456
..
5456
|
G/C |
rs114848780
|
+ |
CDS |
Nonsynonymous[Arg1752Pro] |
|
5857
..
5857
|
C/T |
rs77226128
|
+ |
CDS |
Nonsynonymous[Arg1886Cys] |
|
6185
..
6185
|
G/A |
rs111312335
|
+ |
CDS |
Nonsynonymous[Arg1995Gln] |
|
6299
..
6299
|
G/C |
rs117133016
|
+ |
CDS |
Nonsynonymous[Arg2033Pro] |
|
6415
..
6415
|
C/T |
rs34563620
|
- |
CDS |
Nonsynonymous[Pro2072Ser] |
|
6557
..
6557
|
G/A |
rs115704251
|
+ |
CDS |
Nonsynonymous[Arg2119His] |
|
6792
..
6792
|
G/A |
rs118057303
|
+ |
CDS |
Synonymous[Pro2197Pro] |
|
6810
..
6810
|
C/T |
rs61747729
|
+ |
CDS |
Synonymous[Gly2203Gly] |
|
6954
..
6954
|
A/G |
rs111703345
|
+ |
CDS |
Synonymous[Pro2251Pro] |
|
7171
..
7171
|
C/T |
rs61747731
|
+ |
CDS |
Nonsynonymous[Pro2324Ser] |
|
7522
..
7522
|
C/T |
rs61747730
|
+ |
CDS |
Nonsynonymous[Pro2441Ser] |
|
7759
..
7759
|
G/A |
rs112321557
|
+ |
CDS |
Nonsynonymous[Ala2520Thr] |
|
7769
..
7769
|
C/G |
rs117824484
|
+ |
CDS |
Nonsynonymous[Ala2523Gly] |
|
7833
..
7833
|
T/C |
rs2301802
|
- |
CDS |
Synonymous[Ser2544Ser] |
|
7842
..
7842
|
A/G |
rs114814069
|
+ |
CDS |
Synonymous[Ser2547Ser] |
|
7848
..
7848
|
G/A |
rs117364218
|
+ |
CDS |
Synonymous[Ser2549Ser] |
|
7857
..
7857
|
C/G |
rs59593256
|
+ |
CDS |
Synonymous[Ser2552Ser] |
|
7988
..
7988
|
C/T |
rs111694508
|
+ |
CDS |
Nonsynonymous[Pro2596Leu] |
|
8115
..
8115
|
C/T |
rs79439891
|
+ |
CDS |
Synonymous[Ser2638Ser] |
|
8299
..
8299
|
C/T |
rs116681042
|
+ |
CDS |
Nonsynonymous[Arg2700Cys] |
|
8316
..
8316
|
C/G |
rs35899615
|
+ |
CDS |
Synonymous[Pro2705Pro] |
|
8474
..
8474
|
G/T |
rs1050134
|
+ |
3'UTR |
|
|
8615
..
8615
|
T/C |
rs78617860
|
+ |
3'UTR |
|
|
8616
..
8616
|
C/T |
rs11551731
|
- |
3'UTR |
|
|
8692
..
8692
|
A/G |
rs111748580
|
+ |
3'UTR |
|
|
8707
..
8707
|
G/T |
rs75586278
|
+ |
3'UTR |
|
|
8745
..
8745
|
G/C |
rs112074102
|
+ |
3'UTR |
|
|
8843
..
8843
|
G/A |
rs8843
|
+ |
3'UTR |
|
|
8927
..
8927
|
C/T |
rs1050195
|
+ |
3'UTR |
|
|
8974
..
8974
|
T/C |
rs116928678
|
+ |
3'UTR |
|