Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
80
..
80
|
G/T |
rs146055152
|
- |
CDS |
Nonsynonymous[Ser6Ile] |
84
..
84
|
C/G |
rs142728438
|
- |
CDS |
Nonsynonymous[His7Gln] |
88
..
88
|
G/T |
rs200381467
|
- |
CDS |
Nonsynonymous[Ala9Ser] |
105
..
105
|
C/T |
rs139265353
|
- |
CDS |
Synonymous[Phe14Phe] |
108
..
108
|
G/A |
rs11545351
|
+ |
CDS |
Synonymous[Pro15Pro] |
127
..
127
|
G/A |
rs11545347
|
+ |
CDS |
Nonsynonymous[Asp22Asn] |
139
..
139
|
C/T |
rs11545352
|
+ |
CDS |
Nonsynonymous[His26Tyr] |
153
..
153
|
G/A |
rs79794690
|
- |
CDS |
Nonsynonymous[Met30Ile] |
169
..
169
|
C/A |
rs11545350
|
+ |
CDS |
Nonsynonymous[Pro36Thr] |
186
..
186
|
G/C |
rs2984134
|
+ |
CDS |
Nonsynonymous[Glu41Asp] |
187
..
187
|
C/G |
rs2985905
|
+ |
CDS |
Nonsynonymous[Leu42Val] |
239
..
239
|
C/T |
rs11545344
|
+ |
CDS |
Nonsynonymous[Thr59Ile] |
261
..
261
|
C/T |
rs11545345
|
+ |
CDS |
Synonymous[His66His] |
263
..
263
|
C/A |
rs11545348
|
+ |
CDS |
Nonsynonymous[Pro67Gln] |
310
..
310
|
G/A |
rs150838024
|
- |
CDS |
Nonsynonymous[Glu83Lys] |
358
..
358
|
G/T |
rs201438967
|
- |
CDS |
Nonsynonymous[Gly99Cys] |
476
..
476
|
G/A |
rs11545349
|
+ |
CDS |
Nonsynonymous[Arg138His] |
519
..
519
|
A/C |
rs1136165
|
+ |
CDS |
Synonymous[Arg152Arg] |
562
..
562
|
G/C |
rs200266751
|
- |
CDS |
Nonsynonymous[Gly167Arg] |
588
..
588
|
G/C |
rs200890896
|
- |
CDS |
Synonymous[Ala175Ala] |
593
..
593
|
A/G |
rs36002620
|
+ |
CDS |
Nonsynonymous[Lys177Arg] |
726
..
726
|
C/T |
rs141472120
|
- |
CDS |
Synonymous[Asp221Asp] |
730
..
730
|
A/G |
rs201488531
|
- |
CDS |
Nonsynonymous[Lys223Glu] |
753
..
753
|
C/T |
rs199734997
|
- |
CDS |
Synonymous[Asn230Asn] |
804
..
804
|
G/A |
rs148243589
|
- |
CDS |
Synonymous[Lys247Lys] |
862
..
862
|
A/G |
rs13558
|
+ |
CDS |
Nonsynonymous[Lys267Glu] |
869
..
869
|
A/G |
rs146047573
|
- |
CDS |
Nonsynonymous[Tyr269Cys] |
896
..
896
|
G/A |
rs200360815
|
- |
CDS |
Nonsynonymous[Gly278Asp] |
930
..
930
|
C/T |
rs143711516
|
- |
CDS |
Synonymous[Thr289Thr] |
942
..
942
|
A/G |
rs138229520
|
- |
CDS |
Synonymous[Ala293Ala] |
989
..
989
|
C/T |
rs35156510
|
+ |
CDS |
Nonsynonymous[Ser309Leu] |
999
..
999
|
T/G |
rs202131879
|
- |
CDS |
Synonymous[Leu312Leu] |
1014
..
1014
|
T/A |
rs3208514
|
+ |
CDS |
Synonymous[Leu317Leu] |
1064
^
1065
|
-/T |
rs35430697
|
- |
CDS |
|
1065
..
1065
|
C/A |
rs1803284
|
+ |
CDS |
Nonsynonymous[Phe334Leu] |
1140
..
1140
|
G/A |
rs34509468
|
+ |
CDS |
Synonymous[Leu359Leu] |
1141
..
1141
|
C/T |
rs12505
|
+ |
CDS |
Nonsynonymous[Leu360Phe] |
1145
..
1145
|
T/C |
rs145462676
|
- |
CDS |
Nonsynonymous[Ile361Thr] |
1155
..
1155
|
A/G |
rs1803283
|
+ |
CDS |
Synonymous[Glu364Glu] |
1166
^
1167
|
-/G |
rs34356817
|
- |
CDS |
|
1176
..
1176
|
G/A |
rs140798864
|
- |
CDS |
Synonymous[Gln371Gln] |
1200
..
1200
|
C/T |
rs61730319
|
- |
CDS |
Synonymous[Ala379Ala] |
1255
..
1255
|
T/A |
rs112974559
|
- |
3'UTR |
|
1324
..
1324
|
A/G |
rs1064582
|
+ |
3'UTR |
|
1336
..
1336
|
C/T |
rs11545353
|
- |
3'UTR |
|
1369
..
1369
|
A/G |
rs36002867
|
+ |
3'UTR |
|
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 |
|