Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
57
..
57
|
A/C |
rs142860258
|
+ |
CDS |
Nonsynonymous[Asn10His] |
72
..
72
|
G/C |
rs200299083
|
+ |
CDS |
Nonsynonymous[Glu15Gln] |
104
..
104
|
G/A/T |
rs138692634
|
+ |
CDS |
|
121
..
121
|
C/G |
rs141238218
|
+ |
CDS |
Nonsynonymous[Ser31Cys] |
139
..
139
|
C/T |
rs180793593
|
+ |
CDS |
Nonsynonymous[Thr37Ile] |
164
..
164
|
C/T |
rs111422517
|
+ |
CDS |
Synonymous[Ile45Ile] |
165
..
165
|
G/A |
rs139622628
|
+ |
CDS |
Nonsynonymous[Ala46Thr] |
184
..
184
|
G/A |
rs147790807
|
+ |
CDS |
Nonsynonymous[Arg52Gln] |
184
^
185
|
-/G |
rs142935523
|
+ |
CDS |
|
286
..
286
|
G/A |
rs148774926
|
+ |
CDS |
Nonsynonymous[Arg86Lys] |
288
..
288
|
G/C |
rs151295145
|
+ |
CDS |
Nonsynonymous[Glu87Gln] |
301
..
301
|
T/C |
rs149733928
|
+ |
CDS |
Nonsynonymous[Met91Thr] |
356
..
356
|
C/T |
rs150481200
|
+ |
CDS |
Synonymous[Cys109Cys] |
392
..
392
|
G/T |
rs199724095
|
+ |
CDS |
Synonymous[Arg121Arg] |
396
..
396
|
C/T |
rs201859991
|
+ |
CDS |
AA-STOP[Arg123*] |
428
..
428
|
G/A |
rs141186951
|
+ |
CDS |
Synonymous[Arg133Arg] |
500
..
500
|
T/G |
rs149370975
|
+ |
CDS |
Synonymous[Pro157Pro] |
557
..
557
|
C/T |
rs1800020
|
+ |
CDS |
Synonymous[His176His] |
581
..
581
|
C/T |
rs147827549
|
+ |
CDS |
Synonymous[Tyr184Tyr] |
589
..
589
|
T/G |
rs147206598
|
+ |
CDS |
Nonsynonymous[Phe187Cys] |
593
..
593
|
A/T |
rs200594949
|
+ |
CDS |
Synonymous[Gly188Gly] |
611
..
611
|
G/A |
rs200158656
|
+ |
CDS |
Synonymous[Leu194Leu] |
645
..
645
|
A/G |
rs200052855
|
+ |
CDS |
Nonsynonymous[Arg206Gly] |
717
..
717
|
C/T |
rs141307791
|
+ |
CDS |
Nonsynonymous[Leu230Phe] |
718
..
718
|
T/C |
rs200867459
|
+ |
CDS |
Nonsynonymous[Leu230Pro] |
764
..
764
|
T/C |
rs201820111
|
+ |
CDS |
Synonymous[Tyr245Tyr] |
794
..
794
|
A/G |
rs142679464
|
+ |
CDS |
Synonymous[Ser255Ser] |
799
..
799
|
A/G |
rs113447772
|
+ |
CDS |
Nonsynonymous[Asp257Gly] |
812
..
812
|
T/A |
rs6301
|
+ |
CDS |
Synonymous[Ile261Ile] |
836
..
836
|
G/A |
rs191093250
|
+ |
CDS |
Synonymous[Arg269Arg] |
851
..
851
|
T/C |
rs201728270
|
+ |
CDS |
Synonymous[His274His] |
900
..
900
|
G/C |
rs201702555
|
+ |
CDS |
Nonsynonymous[Ala291Pro] |
908
..
908
|
T/C |
rs200883374
|
+ |
CDS |
Synonymous[Thr293Thr] |
1108
..
1108
|
A/G |
rs112317422
|
+ |
CDS |
Nonsynonymous[Lys360Arg] |
1123
..
1123
|
G/A |
rs183674304
|
+ |
CDS |
Nonsynonymous[Arg365Gln] |
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 |
|