Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
54
..
54
|
A/G |
rs141361976
|
+ |
5'UTR |
|
65
..
65
|
A/G |
rs142436201
|
+ |
CDS |
Synonymous[Lys3Lys] |
86
..
86
|
C/T |
rs140220849
|
+ |
CDS |
Synonymous[Ser10Ser] |
87
..
87
|
G/A |
rs140767178
|
+ |
CDS |
Nonsynonymous[Val11Met] |
108
..
108
|
C/T |
rs150127285
|
+ |
CDS |
Nonsynonymous[Arg18Cys] |
147
..
147
|
G/C |
rs77091978
|
+ |
CDS |
Nonsynonymous[Ala31Pro] |
200
..
200
|
T/C |
rs146989390
|
+ |
CDS |
Synonymous[Asp48Asp] |
241
..
241
|
A/G |
rs149299444
|
+ |
CDS |
Nonsynonymous[Asn62Ser] |
253
..
253
|
A/G |
rs77631323
|
+ |
CDS |
Nonsynonymous[His66Arg] |
266
..
266
|
T/C |
rs142961157
|
+ |
CDS |
Synonymous[Asp70Asp] |
330
..
330
|
G/A |
rs201268929
|
+ |
CDS |
Nonsynonymous[Ala92Thr] |
331
..
331
|
C/T |
rs147452927
|
+ |
CDS |
Nonsynonymous[Ala92Val] |
411
..
411
|
G/A |
rs138543005
|
+ |
CDS |
Nonsynonymous[Glu119Lys] |
418
..
418
|
A/G |
rs150643555
|
+ |
CDS |
Nonsynonymous[Lys121Arg] |
423
..
423
|
C/G |
rs149831189
|
+ |
CDS |
Nonsynonymous[Gln123Glu] |
437
..
437
|
T/C |
rs200527953
|
+ |
CDS |
Synonymous[Asn127Asn] |
602
..
602
|
C/T |
rs146868356
|
+ |
CDS |
Synonymous[His182His] |
621
..
621
|
G/C |
rs144541020
|
+ |
CDS |
Nonsynonymous[Asp189His] |
653
..
653
|
A/T |
rs199632589
|
+ |
CDS |
Synonymous[Ser199Ser] |
713
..
713
|
C/T |
rs17230746
|
+ |
CDS |
Synonymous[Tyr219Tyr] |
794
..
794
|
C/T |
rs200906734
|
+ |
CDS |
Synonymous[Ser246Ser] |
798
..
798
|
A/G |
rs140266263
|
+ |
CDS |
Nonsynonymous[Lys248Glu] |
837
..
837
|
C/T |
rs141398032
|
+ |
CDS |
AA-STOP[Arg261*] |
896
..
896
|
C/T |
rs147986323
|
+ |
CDS |
Synonymous[Gly280Gly] |
905
..
905
|
G/C |
rs138143506
|
+ |
CDS |
Synonymous[Leu283Leu] |
925
..
925
|
A/G |
rs199912817
|
+ |
CDS |
Nonsynonymous[Glu290Gly] |
966
..
966
|
G/A |
rs188001946
|
+ |
CDS |
Nonsynonymous[Ala304Thr] |
1033
..
1033
|
A/G |
rs111540259
|
+ |
CDS |
Nonsynonymous[Gln326Arg] |
1079
..
1079
|
C/T |
rs138120208
|
+ |
CDS |
Synonymous[Asp341Asp] |
1112
..
1112
|
C/G |
rs149563619
|
+ |
CDS |
Synonymous[Thr352Thr] |
1194
..
1194
|
A/G |
rs201853612
|
+ |
CDS |
Nonsynonymous[Lys380Glu] |
1216
..
1216
|
G/T |
rs141487481
|
+ |
CDS |
Nonsynonymous[Arg387Ile] |
1255
..
1255
|
C/T |
rs201019600
|
+ |
CDS |
Nonsynonymous[Pro400Leu] |
1263
..
1263
|
C/T |
rs200956271
|
+ |
CDS |
Nonsynonymous[Arg403Cys] |
1286
..
1286
|
T/C |
rs146358621
|
+ |
CDS |
Synonymous[Phe410Phe] |
1288
..
1288
|
G/A |
rs113815280
|
+ |
CDS |
Nonsynonymous[Gly411Glu] |
1297
..
1297
|
C/G |
rs199902781
|
+ |
CDS |
Nonsynonymous[Thr414Ser] |
1316
..
1316
|
C/T |
rs200435567
|
+ |
CDS |
Synonymous[Ala420Ala] |
1330
..
1330
|
T/C |
rs200952708
|
+ |
CDS |
Nonsynonymous[Met425Thr] |
1337
..
1337
|
G/A |
rs139437131
|
+ |
CDS |
Synonymous[Thr427Thr] |
1343
..
1343
|
C/T |
rs202023552
|
+ |
CDS |
Synonymous[Ser429Ser] |
1368
..
1368
|
C/T |
rs11538443
|
- |
CDS |
Nonsynonymous[Leu438Phe] |
1425
..
1425
|
C/A |
rs145493919
|
+ |
CDS |
Nonsynonymous[Gln457Lys] |
1467
..
1467
|
G/A |
rs147613962
|
+ |
CDS |
Nonsynonymous[Gly471Ser] |
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 |
|