Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
50
..
50
|
C/T |
rs3206661
|
+ |
CDS |
Nonsynonymous[Thr17Ile] |
62
..
62
|
T/C |
rs201244828
|
- |
CDS |
Nonsynonymous[Ile21Thr] |
67
..
67
|
A/T |
rs11546070
|
+ |
CDS |
Nonsynonymous[Met23Leu] |
71
..
71
|
C/T |
rs58615617
|
+ |
CDS |
Nonsynonymous[Thr24Met] |
72
..
72
|
G/A |
rs200653655
|
- |
CDS |
Synonymous[Thr24Thr] |
83
..
83
|
C/G/T |
rs3197068
|
+ |
CDS |
|
84
..
84
|
C/T |
rs199833005
|
- |
CDS |
Synonymous[Ala28Ala] |
151
..
151
|
A/T |
rs201487835
|
- |
CDS |
Nonsynonymous[Asn51Tyr] |
156
..
156
|
A/G |
rs200422708
|
- |
CDS |
Synonymous[Leu52Leu] |
180
..
180
|
C/G |
rs201655736
|
- |
CDS |
Synonymous[Gly60Gly] |
184
..
184
|
G/C |
rs1056525
|
+ |
CDS |
Nonsynonymous[Ala62Pro] |
193
..
193
|
C/A |
rs201247921
|
- |
CDS |
Nonsynonymous[Leu65Ile] |
215
..
215
|
C/T |
rs77198710
|
+ |
CDS |
Nonsynonymous[Thr72Ile] |
228
..
228
|
C/T |
rs2848034
|
+ |
CDS |
Synonymous[Gly76Gly] |
296
..
296
|
C/G |
rs3899433
|
+ |
CDS |
Nonsynonymous[Ser99Cys] |
339
..
339
|
G/A |
rs71241757
|
- |
CDS |
AA-STOP[Trp113*] |
345
..
345
|
G/A |
rs190727741
|
- |
CDS |
Synonymous[Pro115Pro] |
350
..
350
|
C/T |
rs187905157
|
- |
CDS |
Nonsynonymous[Thr117Ile] |
351
..
351
|
T/G/C |
rs182867655
|
- |
CDS |
|
352
..
352
|
T/C |
rs191712435
|
- |
CDS |
Nonsynonymous[Phe118Leu] |
353
..
353
|
T/C |
rs186462161
|
- |
CDS |
Nonsynonymous[Phe118Ser] |
357
..
357
|
C/T |
rs181159708
|
- |
CDS |
Synonymous[Gly119Gly] |
365
..
365
|
C/G |
rs139402168
|
- |
CDS |
Nonsynonymous[Thr122Ser] |
368
..
368
|
A/G |
rs147540982
|
- |
CDS |
Nonsynonymous[Lys123Arg] |
371
..
371
|
T/C |
rs191518742
|
- |
CDS |
Nonsynonymous[Val124Ala] |
373
..
373
|
G/C |
rs145002796
|
- |
CDS |
Nonsynonymous[Glu125Gln] |
374
..
374
|
A/G |
rs185131270
|
- |
CDS |
Nonsynonymous[Glu125Gly] |
375
..
375
|
G/C/A |
rs180910647
|
- |
CDS |
|
376
..
376
|
A/C |
rs139461207
|
- |
CDS |
Nonsynonymous[Ile126Leu] |
381
..
381
|
A/T |
rs78964890
|
- |
CDS |
Nonsynonymous[Lys127Asn] |
401
..
401
|
C/G |
rs148404510
|
- |
CDS |
Nonsynonymous[Ser134Cys] |
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 |
|