Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
1
..
1
|
C/T |
rs148524381
|
+ |
5'UTR |
|
6
..
6
|
G/C |
rs142826230
|
+ |
CDS |
Nonsynonymous[Glu2Gln] |
27
..
27
|
A/G |
rs58002156
|
- |
CDS |
Nonsynonymous[Ser9Gly] |
50
..
50
|
C/T |
rs1044847
|
+ |
CDS |
Synonymous[Cys16Cys] |
56
..
56
|
C/T |
rs146053152
|
+ |
CDS |
Synonymous[Cys18Cys] |
69
..
69
|
C/G |
rs1044849
|
+ |
CDS |
Nonsynonymous[Leu23Val] |
78
..
78
|
G/A |
rs1044850
|
+ |
CDS |
Nonsynonymous[Val26Ile] |
82
..
82
|
G/A |
rs1044851
|
+ |
CDS |
Nonsynonymous[Gly27Asp] |
88
..
88
|
G/A |
rs1044852
|
+ |
CDS |
Nonsynonymous[Ser29Asn] |
93
..
93
|
A/G |
rs1044853
|
+ |
CDS |
Nonsynonymous[Lys31Glu] |
128
..
128
|
C/G |
rs201331452
|
+ |
CDS |
Synonymous[Pro42Pro] |
131
..
131
|
C/T |
rs139457390
|
+ |
CDS |
Synonymous[Asp43Asp] |
176
..
176
|
T/C |
rs144144091
|
+ |
CDS |
Synonymous[Tyr58Tyr] |
186
..
186
|
C/A |
rs199689901
|
+ |
CDS |
Nonsynonymous[Leu62Ile] |
186
..
186
|
C/A |
rs569874
|
+ |
CDS |
Nonsynonymous[Leu62Ile] |
224
^
225
|
-/G |
rs35825325
|
+ |
CDS |
|
262
..
262
|
C/A |
rs146503923
|
+ |
CDS |
Nonsynonymous[Pro87His] |
262
..
262
|
C/A |
rs2449791
|
- |
CDS |
Nonsynonymous[Pro87His] |
289
..
289
|
A/C |
rs2449790
|
- |
CDS |
Nonsynonymous[Tyr96Ser] |
326
..
326
|
A/G |
rs147021701
|
+ |
CDS |
Synonymous[Arg108Arg] |
329
..
329
|
T/C |
rs41290974
|
- |
CDS |
Synonymous[Tyr109Tyr] |
341
..
341
|
A/T |
rs201577424
|
+ |
CDS |
Nonsynonymous[Gln113His] |
341
..
341
|
A/T |
rs471887
|
- |
CDS |
Nonsynonymous[Gln113His] |
351
..
351
|
T/C |
rs79829378
|
+ |
CDS |
Nonsynonymous[Ser117Pro] |
373
..
373
|
T/C |
rs9902553
|
- |
CDS |
Nonsynonymous[Ile124Thr] |
398
..
398
|
A/G |
rs145531116
|
+ |
CDS |
Synonymous[Thr132Thr] |
399
..
399
|
A/G |
rs201006374
|
+ |
CDS |
Nonsynonymous[Lys133Glu] |
407
..
407
|
C/T |
rs148845002
|
+ |
CDS |
Synonymous[Ser135Ser] |
461
..
461
|
C/G/T |
rs112535435
|
+ |
CDS |
|
465
..
465
|
C/T |
rs202063240
|
+ |
CDS |
Nonsynonymous[Arg155Cys] |
483
..
483
|
G/A |
rs137899779
|
+ |
CDS |
Nonsynonymous[Val161Ile] |
486
..
486
|
G/A |
rs141921890
|
+ |
CDS |
Nonsynonymous[Glu162Lys] |
494
..
494
|
A/C |
rs201112439
|
+ |
CDS |
Synonymous[Pro164Pro] |
559
..
559
|
C/T |
rs146905900
|
+ |
CDS |
Nonsynonymous[Thr186Ile] |
622
..
622
|
C/T |
rs1638299
|
- |
CDS |
Nonsynonymous[Ala207Val] |
670
..
670
|
C/G |
rs139322675
|
+ |
CDS |
Nonsynonymous[Thr223Arg] |
686
..
686
|
C/T |
rs199662103
|
+ |
CDS |
Synonymous[Cys228Cys] |
690
..
690
|
A/T |
rs139560584
|
+ |
CDS |
Nonsynonymous[Thr230Ser] |
697
..
697
|
G/A |
rs201551794
|
+ |
CDS |
Nonsynonymous[Cys232Tyr] |
727
..
727
|
A/C |
rs138060086
|
+ |
CDS |
Nonsynonymous[Glu242Ala] |
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 |
|