Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
175
..
175
|
C/T |
rs11550913
|
+ |
5'UTR |
|
308
..
308
|
C/G |
rs201121717
|
+ |
5'UTR |
|
407
..
407
|
C/T |
rs147742474
|
+ |
CDS |
Synonymous[Ser19Ser] |
438
..
438
|
G/A |
rs191294793
|
+ |
CDS |
Nonsynonymous[Glu30Lys] |
482
..
482
|
G/A |
rs142274678
|
+ |
CDS |
Synonymous[Lys44Lys] |
530
..
530
|
G/C |
rs141052238
|
+ |
CDS |
Synonymous[Val60Val] |
539
..
539
|
C/T |
rs190397357
|
+ |
CDS |
Synonymous[Pro63Pro] |
729
^
730
|
-/C |
rs34597682
|
+ |
CDS |
|
815
..
815
|
C/T |
rs16905401
|
+ |
CDS |
Synonymous[Leu155Leu] |
823
..
823
|
A/G |
rs201758637
|
+ |
CDS |
Nonsynonymous[Asp158Gly] |
830
..
830
|
T/C |
rs145472431
|
+ |
CDS |
Synonymous[Asn160Asn] |
928
..
928
|
G/A |
rs200509558
|
+ |
CDS |
Nonsynonymous[Arg193His] |
969
..
969
|
G/C |
rs200026165
|
+ |
CDS |
Nonsynonymous[Gly207Arg] |
988
..
988
|
C/T |
rs148841356
|
+ |
CDS |
Nonsynonymous[Pro213Leu] |
991
..
991
|
T/C |
rs143501901
|
+ |
CDS |
Nonsynonymous[Val214Ala] |
1015
..
1015
|
C/T |
rs150971318
|
+ |
CDS |
Nonsynonymous[Thr222Met] |
1016
..
1016
|
G/A |
rs140999731
|
+ |
CDS |
Synonymous[Thr222Thr] |
1041
..
1041
|
A/G |
rs201184278
|
+ |
CDS |
Nonsynonymous[Thr231Ala] |
1070
..
1070
|
A/G |
rs199816214
|
+ |
CDS |
Synonymous[Gly240Gly] |
1084
..
1084
|
G/A |
rs201822878
|
+ |
CDS |
Nonsynonymous[Arg245Lys] |
1104
..
1104
|
A/G |
rs144816427
|
+ |
CDS |
Nonsynonymous[Thr252Ala] |
1144
..
1144
|
C/T |
rs199983279
|
+ |
CDS |
Nonsynonymous[Thr265Ile] |
1147
..
1147
|
A/G |
rs201017593
|
+ |
CDS |
Nonsynonymous[Tyr266Cys] |
1228
..
1228
|
C/T |
rs138747212
|
+ |
CDS |
Nonsynonymous[Thr293Ile] |
1262
..
1262
|
C/T |
rs141874778
|
+ |
CDS |
Synonymous[Tyr304Tyr] |
1263
..
1263
|
G/A |
rs150184893
|
+ |
CDS |
Nonsynonymous[Gly305Arg] |
1268
..
1268
|
T/C |
rs202041702
|
+ |
CDS |
Synonymous[His306His] |
1307
..
1307
|
A/G |
rs143154338
|
+ |
CDS |
Synonymous[Glu319Glu] |
1325
..
1325
|
A/G |
rs149365116
|
+ |
CDS |
Synonymous[Arg325Arg] |
1342
..
1342
|
C/T |
rs201292624
|
+ |
CDS |
Nonsynonymous[Ala331Val] |
1343
..
1343
|
G/A |
rs201329239
|
+ |
CDS |
Synonymous[Ala331Ala] |
1358
..
1358
|
C/A/T |
rs144732287
|
+ |
CDS |
|
1359
..
1359
|
G/A |
rs138429826
|
+ |
CDS |
Nonsynonymous[Val337Ile] |
1369
..
1369
|
A/C |
rs202045003
|
+ |
CDS |
Nonsynonymous[Asp340Ala] |
1451
..
1451
|
T/C |
rs3210857
|
+ |
3'UTR |
|
1490
..
1490
|
A/G |
rs3184618
|
+ |
3'UTR |
|
1551
^
1552
|
-/A |
rs34118572
|
+ |
3'UTR |
|
1552
..
1552
|
G/A |
rs1128066
|
+ |
3'UTR |
|
1553
^
1554
|
-/A |
rs59580956
|
+ |
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 |
|