Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
43
..
43
|
G/A |
rs115148137
|
+ |
CDS |
Nonsynonymous[Val15Met] |
50
..
50
|
A/G |
rs150592938
|
+ |
CDS |
Nonsynonymous[Asn17Ser] |
73
..
73
|
C/T |
rs139909964
|
+ |
CDS |
Nonsynonymous[Arg25Cys] |
80
..
80
|
C/T |
rs143407258
|
+ |
CDS |
Nonsynonymous[Pro27Leu] |
116
^
117
|
-/T |
rs66473060
|
+ |
CDS |
|
189
..
189
|
C/T |
rs184634189
|
+ |
CDS |
Synonymous[Ser63Ser] |
190
..
190
|
G/A |
rs34373350
|
- |
CDS |
Nonsynonymous[Ala64Thr] |
219
..
219
|
G/A |
rs139241184
|
+ |
CDS |
Synonymous[Pro73Pro] |
243
..
243
|
A/G |
rs11700777
|
+ |
CDS |
Synonymous[Gln81Gln] |
262
..
262
|
A/C |
rs144867115
|
+ |
CDS |
Nonsynonymous[Ser88Arg] |
272
..
272
|
A/G |
rs114481523
|
+ |
CDS |
Nonsynonymous[Lys91Arg] |
284
..
284
|
G/A |
rs149038175
|
+ |
CDS |
Nonsynonymous[Arg95Gln] |
346
..
346
|
C/T |
rs78391361
|
+ |
CDS |
Nonsynonymous[Leu116Phe] |
359
..
359
|
A/G |
rs201321686
|
+ |
CDS |
Nonsynonymous[Asn120Ser] |
396
..
396
|
C/T |
rs142958770
|
+ |
CDS |
Synonymous[Phe132Phe] |
397
..
397
|
G/A |
rs201897945
|
+ |
CDS |
Nonsynonymous[Gly133Ser] |
434
..
434
|
A/T |
rs1803557
|
+ |
CDS |
Nonsynonymous[Glu145Val] |
448
..
448
|
C/T |
rs147754962
|
+ |
CDS |
Synonymous[Leu150Leu] |
462
..
462
|
T/A |
rs142517222
|
+ |
CDS |
Nonsynonymous[Phe154Leu] |
495
^
496
|
-/C |
rs34472454
|
+ |
CDS |
|
609
..
609
|
G/T |
rs200961208
|
+ |
CDS |
Synonymous[Ala203Ala] |
639
..
639
|
C/G |
rs200893699
|
+ |
CDS |
Synonymous[Pro213Pro] |
646
..
646
|
G/A |
rs115908228
|
+ |
CDS |
Nonsynonymous[Gly216Ser] |
649
..
649
|
C/A |
rs61735785
|
+ |
CDS |
Nonsynonymous[Leu217Ile] |
653
..
653
|
T/G |
rs114460001
|
+ |
CDS |
Nonsynonymous[Leu218Arg] |
665
..
665
|
G/T |
rs115297166
|
+ |
CDS |
Nonsynonymous[Cys222Phe] |
668
..
668
|
C/T |
rs114562289
|
+ |
CDS |
Nonsynonymous[Pro223Leu] |
684
..
684
|
C/T |
rs115786160
|
+ |
CDS |
Synonymous[Ser228Ser] |
727
..
727
|
C/T |
rs150430243
|
+ |
CDS |
Nonsynonymous[Arg243Trp] |
739
..
739
|
G/A |
rs138127643
|
+ |
CDS |
Nonsynonymous[Val247Ile] |
745
..
745
|
G/A |
rs116698978
|
+ |
CDS |
Nonsynonymous[Val249Ile] |
816
..
816
|
G/T |
rs457705
|
+ |
CDS |
Synonymous[Thr272Thr] |
843
..
843
|
C/T |
rs201143455
|
+ |
CDS |
Synonymous[Asn281Asn] |
848
..
848
|
C/T |
rs138783369
|
+ |
CDS |
Nonsynonymous[Ala283Val] |
849
..
849
|
G/A |
rs115426813
|
+ |
CDS |
Synonymous[Ala283Ala] |
896
..
896
|
A/C |
rs146230611
|
+ |
CDS |
Nonsynonymous[Gln299Pro] |
933
..
933
|
C/T |
rs113417859
|
+ |
CDS |
Synonymous[Phe311Phe] |
942
..
942
|
C/T |
rs201065633
|
+ |
CDS |
Synonymous[Phe314Phe] |
964
..
964
|
C/G |
rs201705823
|
+ |
CDS |
Nonsynonymous[Leu322Val] |
1022
..
1022
|
C/T |
rs139305338
|
+ |
CDS |
Nonsynonymous[Pro341Leu] |
1023
..
1023
|
G/A |
rs461155
|
+ |
CDS |
Synonymous[Pro341Pro] |
1035
^
1036
|
-/C |
rs34120017
|
+ |
CDS |
|
1057
..
1057
|
G/A |
rs116771448
|
+ |
CDS |
Nonsynonymous[Val353Met] |
1162
..
1162
|
G/A |
rs116387099
|
+ |
CDS |
Nonsynonymous[Gly388Arg] |
1179
..
1179
|
C/T |
rs116476013
|
+ |
CDS |
Synonymous[Leu393Leu] |
1182
..
1182
|
C/T |
rs185172042
|
+ |
CDS |
Synonymous[Ala394Ala] |
1183
..
1183
|
G/A |
rs115880316
|
+ |
CDS |
Nonsynonymous[Asp395Asn] |
1229
..
1229
|
C/T |
rs200586471
|
+ |
CDS |
Nonsynonymous[Pro410Leu] |
1299
..
1299
|
G/A |
rs139455779
|
+ |
CDS |
Synonymous[Thr433Thr] |
1362
..
1362
|
C/T |
rs149674474
|
+ |
CDS |
Synonymous[Pro454Pro] |
1366
..
1366
|
G/A |
rs147744979
|
+ |
CDS |
Nonsynonymous[Glu456Lys] |
1384
..
1384
|
G/A |
rs142665354
|
+ |
CDS |
Nonsynonymous[Gly462Ser] |
1388
..
1388
|
T/C |
rs144935329
|
+ |
CDS |
Nonsynonymous[Val463Ala] |
1395
..
1395
|
C/A |
rs17854245
|
+ |
CDS |
Synonymous[Pro465Pro] |
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 |
|