Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
78
..
78
|
G/A |
rs200953503
|
- |
5'UTR |
|
107
..
107
|
G/C |
rs181359165
|
- |
5'UTR |
|
108
..
108
|
G/A |
rs188565066
|
- |
5'UTR |
|
125
..
125
|
C/T |
rs17424353
|
+ |
5'UTR |
|
125
..
125
|
C/T |
rs1059832
|
- |
5'UTR |
|
157
..
157
|
T/G |
rs201926274
|
- |
CDS |
AA-STOP[Tyr10*] |
172
..
172
|
T/A |
rs1137006
|
- |
CDS |
Synonymous[Ser15Ser] |
193
..
193
|
A/T |
rs201091435
|
- |
CDS |
Nonsynonymous[Glu22Asp] |
209
..
209
|
A/G |
rs201674700
|
- |
CDS |
Nonsynonymous[Ile28Val] |
233
..
233
|
C/T |
rs1059831
|
- |
CDS |
Nonsynonymous[Arg36Trp] |
234
..
234
|
G/A |
rs200755605
|
- |
CDS |
Nonsynonymous[Arg36Gln] |
242
..
242
|
A/C |
rs201838992
|
- |
CDS |
Nonsynonymous[Lys39Gln] |
246
..
246
|
C/T |
rs72909030
|
- |
CDS |
Nonsynonymous[Ala40Val] |
271
..
271
|
A/G |
rs1137005
|
- |
CDS |
Synonymous[Arg48Arg] |
271
..
271
|
A/G |
rs202221588
|
- |
CDS |
Synonymous[Arg48Arg] |
277
..
277
|
G/A |
rs1137004
|
- |
CDS |
Synonymous[Glu50Glu] |
278
..
278
|
A/G |
rs201592416
|
- |
CDS |
Nonsynonymous[Lys51Glu] |
281
..
281
|
C/T |
rs1059830
|
- |
CDS |
Nonsynonymous[Arg52Cys] |
291
..
291
|
G/A |
rs1137003
|
- |
CDS |
Nonsynonymous[Arg55His] |
327
..
327
|
T/C/A |
rs112748730
|
- |
CDS |
|
328
^
329
|
-/AAAGAA |
rs199866927
|
- |
CDS |
|
333
^
334
|
-/AAAGAA |
rs35961525
|
- |
CDS |
|
338
..
338
|
G/A |
rs200224067
|
- |
CDS |
Nonsynonymous[Glu71Lys] |
362
..
362
|
C/A |
rs199510897
|
- |
CDS |
Synonymous[Arg79Arg] |
364
..
364
|
G/A |
rs72909014
|
- |
CDS |
Synonymous[Arg79Arg] |
377
..
377
|
C/T |
rs201054761
|
- |
CDS |
AA-STOP[Gln84*] |
392
..
392
|
C/T |
rs200272503
|
- |
CDS |
Nonsynonymous[Arg89Trp] |
421
..
421
|
G/A |
rs72901775
|
- |
CDS |
Synonymous[Glu98Glu] |
550
..
550
|
A/G |
rs201539299
|
- |
CDS |
Synonymous[Ala141Ala] |
550
..
550
|
A/G |
rs55699379
|
- |
CDS |
Synonymous[Ala141Ala] |
557
..
557
|
C/T |
rs55710038
|
- |
CDS |
Nonsynonymous[Arg144Trp] |
640
..
640
|
C/T |
rs55954897
|
- |
CDS |
Synonymous[Ala171Ala] |
847
..
847
|
G/A |
rs150540375
|
- |
CDS |
Synonymous[Ala240Ala] |
847
..
847
|
G/A |
rs1137001
|
- |
CDS |
Synonymous[Ala240Ala] |
1099
..
1099
|
C/T |
rs55702624
|
- |
CDS |
Synonymous[Ser324Ser] |
1100
..
1100
|
G/A |
rs200227742
|
- |
CDS |
Nonsynonymous[Gly325Arg] |
1100
..
1100
|
G/A |
rs6658335
|
- |
CDS |
Nonsynonymous[Gly325Arg] |
1173
..
1173
|
A/G |
rs201923408
|
- |
CDS |
Nonsynonymous[Tyr349Cys] |
1197
..
1197
|
C/T |
rs1059828
|
- |
CDS |
Nonsynonymous[Ser357Leu] |
1202
..
1202
|
A/G |
rs200966225
|
- |
CDS |
Nonsynonymous[Ile359Val] |
1216
..
1216
|
G/A |
rs11488586
|
- |
CDS |
Synonymous[Gln363Gln] |
1258
..
1258
|
C/T |
rs199667620
|
- |
CDS |
Synonymous[Ser377Ser] |
1343
..
1343
|
A/G |
rs55658751
|
- |
CDS |
Nonsynonymous[Ile406Val] |
1393
..
1393
|
G/A |
rs200286198
|
- |
CDS |
Synonymous[Pro422Pro] |
1402
..
1402
|
G/T |
rs138980727
|
- |
CDS |
Synonymous[Ser425Ser] |
1402
..
1402
|
G/T/C |
rs1059825
|
- |
CDS |
|
1405
..
1405
|
G/C |
rs117061368
|
- |
CDS |
Synonymous[Leu426Leu] |
1447
..
1447
|
C/T |
rs17434073
|
+ |
CDS |
Synonymous[Ile440Ile] |
1447
..
1447
|
C/T |
rs1136999
|
- |
CDS |
Synonymous[Ile440Ile] |
1510
..
1510
|
T/C |
rs61745144
|
- |
CDS |
Synonymous[Tyr461Tyr] |
1547
..
1547
|
A/C |
rs202208701
|
- |
CDS |
Nonsynonymous[Lys474Gln] |
1600
..
1600
|
T/G |
rs190165683
|
- |
CDS |
Synonymous[Arg491Arg] |
1600
..
1600
|
T/G |
rs1136997
|
- |
CDS |
Synonymous[Arg491Arg] |
1673
..
1673
|
G/A |
rs202189602
|
- |
CDS |
Nonsynonymous[Ala516Thr] |
1744
..
1744
|
G/A |
rs200964630
|
- |
CDS |
Synonymous[Pro539Pro] |
1758
..
1758
|
T/A |
rs200190129
|
- |
CDS |
Nonsynonymous[Leu544Gln] |
1758
..
1758
|
T/A |
rs1059817
|
- |
CDS |
Nonsynonymous[Leu544Gln] |
1831
..
1831
|
T/C |
rs200050513
|
- |
CDS |
Synonymous[Gly568Gly] |
1879
..
1879
|
G/T |
rs1059815
|
- |
CDS |
Nonsynonymous[Lys584Asn] |
1882
..
1882
|
A/G |
rs1059814
|
- |
CDS |
Synonymous[Ser585Ser] |
1888
..
1888
|
C/T |
rs139220282
|
- |
CDS |
Synonymous[Ile587Ile] |
1903
..
1903
|
G/A |
rs17424311
|
+ |
CDS |
Synonymous[Lys592Lys] |
1915
..
1915
|
T/G |
rs150949339
|
- |
CDS |
Nonsynonymous[Asp596Glu] |
1927
..
1927
|
T/C |
rs147836863
|
- |
CDS |
Synonymous[Pro600Pro] |
1954
..
1954
|
C/T |
rs116527252
|
- |
CDS |
Synonymous[Ser609Ser] |
1965
..
1965
|
C/T |
rs201006058
|
- |
CDS |
Nonsynonymous[Ala613Val] |
2080
..
2080
|
C/T |
rs61730916
|
- |
CDS |
Synonymous[Pro651Pro] |
2086
..
2086
|
G/A |
rs56009265
|
- |
CDS |
Synonymous[Arg653Arg] |
2147
..
2147
|
G/A |
rs55646922
|
- |
CDS |
Nonsynonymous[Asp674Asn] |
2242
..
2242
|
C/T |
rs55640223
|
- |
CDS |
Synonymous[Tyr705Tyr] |
2265
..
2265
|
T/A |
rs3208293
|
+ |
CDS |
Nonsynonymous[Leu713Gln] |
2271
..
2271
|
A/G |
rs3208294
|
+ |
CDS |
Nonsynonymous[Glu715Gly] |
2275
..
2275
|
G/C |
rs55897751
|
- |
CDS |
Synonymous[Thr716Thr] |
2317
..
2317
|
G/A |
rs56157505
|
- |
CDS |
Synonymous[Ala730Ala] |
2336
..
2336
|
A/G |
rs3180266
|
+ |
CDS |
Nonsynonymous[Lys737Glu] |
2437
..
2437
|
G/A |
rs11543309
|
+ |
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 |
|