Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
44
..
44
|
G/C |
rs61729112
|
+ |
CDS |
Nonsynonymous[Arg15Pro] |
|
53
..
53
|
C/T |
rs61739899
|
+ |
CDS |
Nonsynonymous[Ala18Val] |
|
68
..
68
|
G/T |
rs1141965
|
+ |
CDS |
Nonsynonymous[Gly23Val] |
|
76
..
76
|
C/G |
rs1960188
|
- |
CDS |
Nonsynonymous[Leu26Val] |
|
83
..
83
|
G/A |
rs1064770
|
+ |
CDS |
Nonsynonymous[Arg28Gln] |
|
86
..
86
|
T/C |
rs112944038
|
+ |
CDS |
Nonsynonymous[Val29Ala] |
|
86
..
86
|
T/C |
rs1064771
|
+ |
CDS |
Nonsynonymous[Val29Ala] |
|
90
..
90
|
C/T |
rs112531166
|
+ |
CDS |
Synonymous[Gly30Gly] |
|
93
..
93
|
C/T |
rs1800987
|
+ |
CDS |
Synonymous[Ile31Ile] |
|
96
..
96
|
C/T |
rs17434400
|
+ |
CDS |
Synonymous[Val32Val] |
|
96
..
96
|
C/T |
rs62012906
|
+ |
CDS |
Synonymous[Val32Val] |
|
129
..
129
|
C/G |
rs1960187
|
- |
CDS |
Synonymous[Pro43Pro] |
|
152
..
152
|
A/G |
rs61753435
|
+ |
CDS |
Nonsynonymous[His51Arg] |
|
152
..
152
|
A/G |
rs1060281
|
- |
CDS |
Nonsynonymous[His51Arg] |
|
153
..
153
|
C/T |
rs1800989
|
+ |
CDS |
Synonymous[His51His] |
|
155
..
155
|
G/A |
rs17841227
|
+ |
CDS |
Nonsynonymous[Gly52Asp] |
|
158
..
158
|
C/G |
rs17841226
|
+ |
CDS |
Nonsynonymous[Pro53Arg] |
|
171
..
171
|
C/T |
rs1960186
|
- |
CDS |
Synonymous[His57His] |
|
171
..
171
|
C/T |
rs55701457
|
- |
CDS |
Synonymous[His57His] |
|
174
..
174
|
C/T |
rs2982423
|
- |
CDS |
Synonymous[Phe58Phe] |
|
177
..
177
|
C/T |
rs2230084
|
+ |
CDS |
Synonymous[Cys59Cys] |
|
309
..
309
|
G/A |
rs1064773
|
+ |
CDS |
Synonymous[Pro103Pro] |
|
333
..
333
|
A/C |
rs2234903
|
+ |
CDS |
Synonymous[Pro111Pro] |
|
344
..
344
|
C/T |
rs1064774
|
+ |
CDS |
Nonsynonymous[Thr115Ile] |
|
346
..
346
|
G/A |
rs1064775
|
+ |
CDS |
Nonsynonymous[Ala116Thr] |
|
347
..
347
|
C/T |
rs1064776
|
+ |
CDS |
Nonsynonymous[Ala116Val] |
|
353
..
354
|
TC/CT |
rs71376589
|
- |
CDS |
|
|
363
..
363
|
C/T |
rs1064777
|
+ |
CDS |
Synonymous[Asp121Asp] |
|
390
..
390
|
G/C |
rs1064778
|
+ |
CDS |
Synonymous[Pro130Pro] |
|
396
..
396
|
C/G |
rs1800991
|
+ |
CDS |
Nonsynonymous[Asn132Lys] |
|
397
..
397
|
G/A |
rs1064779
|
+ |
CDS |
Nonsynonymous[Val133Ile] |
|
407
..
407
|
A/G |
rs1064780
|
+ |
CDS |
Nonsynonymous[His136Arg] |
|
421
..
421
|
A/G |
rs1800992
|
+ |
CDS |
Nonsynonymous[Thr141Ala] |
|
422
..
422
|
C/T |
rs1064781
|
+ |
CDS |
Nonsynonymous[Thr141Ile] |
|
423
..
423
|
C/G |
rs1064782
|
+ |
CDS |
Synonymous[Thr141Thr] |
|
438
..
438
|
A/G |
rs1064783
|
+ |
CDS |
Synonymous[Ser146Ser] |
|
451
^
452
|
-/C |
rs2234647
|
+ |
CDS |
|
|
484
..
484
|
G/A |
rs2234641
|
+ |
CDS |
Nonsynonymous[Asp162Asn] |
|
503
..
503
|
G/C |
rs1141969
|
+ |
CDS |
Nonsynonymous[Arg168Pro] |
|
508
..
508
|
C/T |
rs2234904
|
+ |
CDS |
Nonsynonymous[Pro170Ser] |
|
522
..
522
|
T/C |
rs1141970
|
+ |
CDS |
Synonymous[Pro174Pro] |
|
613
..
613
|
G/A |
rs1060284
|
+ |
CDS |
Nonsynonymous[Val205Ile] |
|
644
..
644
|
C/G |
rs2234905
|
+ |
CDS |
Nonsynonymous[Thr215Ser] |
|
647
..
647
|
G/A |
rs2234906
|
+ |
CDS |
Nonsynonymous[Arg216Gln] |
|
657
..
657
|
A/C |
rs2234907
|
+ |
CDS |
Synonymous[Ser219Ser] |
|
661
..
661
|
C/A |
rs17841224
|
+ |
CDS |
Nonsynonymous[Gln221Lys] |
|
672
..
672
|
C/T |
rs1137383
|
+ |
CDS |
Synonymous[Ser224Ser] |
|
711
..
711
|
G/A |
rs1060290
|
+ |
CDS |
Synonymous[Leu237Leu] |
|
734
..
734
|
G/A |
rs1060292
|
+ |
CDS |
Nonsynonymous[Gly245Asp] |
| 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 |
|