Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
1
..
1
|
G/T |
rs61755905
|
- |
CDS |
AA-STOP[Glu1*] |
6
..
6
|
T/A |
rs61755910
|
- |
CDS |
Synonymous[Ile2Ile] |
37
..
37
|
T/G |
rs61748331
|
- |
CDS |
Nonsynonymous[Leu13Val] |
71
..
71
|
G/T |
rs201500484
|
- |
CDS |
Nonsynonymous[Arg24Met] |
81
..
81
|
G/C |
rs189180740
|
- |
CDS |
Nonsynonymous[Gln27His] |
82
..
82
|
A/G |
rs3929270
|
+ |
CDS |
Nonsynonymous[Ser28Gly] |
82
..
82
|
A/G |
rs61748348
|
- |
CDS |
Nonsynonymous[Ser28Gly] |
88
..
88
|
A/G |
rs183365521
|
- |
CDS |
Nonsynonymous[Ser30Gly] |
92
..
92
|
G/C |
rs191953548
|
- |
CDS |
Nonsynonymous[Ser31Thr] |
93
..
93
|
C/T |
rs187415988
|
- |
CDS |
Synonymous[Ser31Ser] |
94
..
94
|
T/A |
rs61748352
|
- |
CDS |
Nonsynonymous[Tyr32Asn] |
95
..
95
|
A/C |
rs182380932
|
- |
CDS |
Nonsynonymous[Tyr32Ser] |
111
..
111
|
A/G |
rs2847799
|
+ |
CDS |
Synonymous[Gln37Gln] |
116
..
116
|
A/T/G |
rs112197910
|
- |
CDS |
|
128
..
128
|
C/T |
rs200393916
|
- |
CDS |
Nonsynonymous[Ala43Val] |
149
..
149
|
A/G |
rs61739964
|
- |
CDS |
Nonsynonymous[Asp50Gly] |
152
..
152
|
C/T |
rs201955697
|
- |
CDS |
Nonsynonymous[Ala51Val] |
199
..
199
|
T/C |
rs2624347
|
+ |
CDS |
Nonsynonymous[Ser67Pro] |
199
..
199
|
T/C |
rs191612627
|
- |
CDS |
Nonsynonymous[Ser67Pro] |
209
..
209
|
A/G |
rs201311579
|
- |
CDS |
Nonsynonymous[Asp70Gly] |
227
..
227
|
G/C |
rs113073269
|
- |
CDS |
Nonsynonymous[Ser76Thr] |
231
..
231
|
C/A |
rs11546075
|
+ |
CDS |
Nonsynonymous[Ser77Arg] |
253
..
253
|
G/A |
rs11546082
|
+ |
CDS |
Nonsynonymous[Val85Ile] |
258
..
258
|
T/C |
rs11546088
|
+ |
CDS |
Synonymous[Tyr86Tyr] |
265
..
265
|
C/T |
rs199974090
|
- |
CDS |
AA-STOP[Gln89*] |
272
..
272
|
G/A |
rs185920904
|
- |
CDS |
Nonsynonymous[Arg91His] |
277
..
277
|
A/G |
rs111953224
|
- |
CDS |
Nonsynonymous[Asn93Asp] |
280
..
280
|
T/A |
rs114698860
|
- |
CDS |
Nonsynonymous[Trp94Arg] |
292
..
292
|
T/G |
rs72847528
|
- |
CDS |
Nonsynonymous[Phe98Val] |
293
..
293
|
T/G |
rs190475170
|
- |
CDS |
Nonsynonymous[Phe98Cys] |
300
..
300
|
T/C |
rs112915083
|
- |
CDS |
Synonymous[Pro100Pro] |
306
..
306
|
C/T |
rs186782281
|
- |
CDS |
Synonymous[Thr102Thr] |
307
..
307
|
A/G |
rs181878952
|
- |
CDS |
Nonsynonymous[Lys103Glu] |
309
..
309
|
A/G |
rs149374792
|
- |
CDS |
Synonymous[Lys103Lys] |
313
..
313
|
G/C |
rs188533155
|
- |
CDS |
Nonsynonymous[Asp105His] |
316
..
316
|
A/G |
rs72847527
|
- |
CDS |
Nonsynonymous[Ile106Val] |
322
..
322
|
C/T/A |
rs138460143
|
- |
CDS |
|
323
..
323
|
G/T |
rs78953831
|
- |
CDS |
Nonsynonymous[Arg108Leu] |
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 |
|