Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
8
..
8
|
C/T |
rs151124717
|
+ |
CDS |
Nonsynonymous[Pro3Leu] |
39
^
40
|
-/G |
rs143033088
|
+ |
CDS |
|
42
..
42
|
C/T |
rs11554609
|
- |
CDS |
Synonymous[Gly14Gly] |
65
..
65
|
C/T |
rs140709072
|
+ |
CDS |
Nonsynonymous[Pro22Leu] |
66
..
66
|
T/C |
rs11767527
|
+ |
CDS |
Synonymous[Pro22Pro] |
78
..
78
|
C/T |
rs61742510
|
+ |
CDS |
Synonymous[Leu26Leu] |
86
..
86
|
C/T |
rs190667227
|
+ |
CDS |
Nonsynonymous[Pro29Leu] |
95
..
95
|
G/A |
rs147898754
|
+ |
CDS |
Nonsynonymous[Arg32Gln] |
102
..
102
|
G/A |
rs61742514
|
+ |
CDS |
Synonymous[Ala34Ala] |
121
..
121
|
G/A |
rs200158266
|
+ |
CDS |
Nonsynonymous[Glu41Lys] |
182
..
182
|
C/A |
rs149711058
|
+ |
CDS |
Nonsynonymous[Thr61Asn] |
201
..
201
|
C/T |
rs199669475
|
+ |
CDS |
Synonymous[Asp67Asp] |
214
..
214
|
C/T |
rs201640619
|
+ |
CDS |
Nonsynonymous[Arg72Cys] |
216
..
216
|
T/C |
rs193005221
|
+ |
CDS |
Synonymous[Arg72Arg] |
224
..
224
|
C/T |
rs145638311
|
+ |
CDS |
Nonsynonymous[Pro75Leu] |
227
..
227
|
G/A |
rs61997249
|
+ |
CDS |
Nonsynonymous[Arg76Gln] |
243
..
243
|
C/T |
rs200644745
|
+ |
CDS |
Synonymous[Ser81Ser] |
249
..
249
|
C/T |
rs143603193
|
+ |
CDS |
Synonymous[Tyr83Tyr] |
254
..
254
|
C/T |
rs73267959
|
+ |
CDS |
Nonsynonymous[Thr85Met] |
262
..
262
|
G/A |
rs184553696
|
+ |
CDS |
Nonsynonymous[Val88Met] |
267
..
267
|
C/T |
rs142752160
|
+ |
CDS |
Synonymous[Cys89Cys] |
273
..
273
|
C/T |
rs140786383
|
+ |
CDS |
Synonymous[Phe91Phe] |
274
..
274
|
G/A |
rs201939119
|
+ |
CDS |
Nonsynonymous[Val92Met] |
276
..
276
|
G/A |
rs200769532
|
+ |
CDS |
Synonymous[Val92Val] |
286
..
286
|
G/T |
rs144702818
|
+ |
CDS |
Nonsynonymous[Ala96Ser] |
292
..
292
|
C/T |
rs146968874
|
+ |
CDS |
Synonymous[Leu98Leu] |
294
..
294
|
G/A |
rs201670614
|
+ |
CDS |
Synonymous[Leu98Leu] |
309
..
309
|
G/A |
rs142160836
|
+ |
CDS |
Synonymous[Ser103Ser] |
318
..
318
|
C/T |
rs150866891
|
+ |
CDS |
Synonymous[Phe106Phe] |
331
..
331
|
C/T |
rs138328840
|
+ |
CDS |
Nonsynonymous[His111Tyr] |
333
..
333
|
T/C |
rs149652676
|
+ |
CDS |
Synonymous[His111His] |
345
..
345
|
C/T |
rs144384748
|
+ |
CDS |
Synonymous[Arg115Arg] |
355
..
355
|
T/C |
rs140745634
|
+ |
CDS |
Nonsynonymous[Cys119Arg] |
357
..
357
|
C/T |
rs144593791
|
+ |
CDS |
Synonymous[Cys119Cys] |
372
..
372
|
C/T |
rs147488763
|
+ |
CDS |
Synonymous[Asn124Asn] |
373
..
373
|
G/A |
rs139937732
|
+ |
CDS |
Nonsynonymous[Ala125Thr] |
392
..
392
|
C/T |
rs142169372
|
+ |
CDS |
Nonsynonymous[Thr131Met] |
405
..
405
|
C/T |
rs137895227
|
+ |
CDS |
Synonymous[Ile135Ile] |
441
..
441
|
G/A |
rs112627962
|
+ |
CDS |
Synonymous[Ala147Ala] |
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 |
|