Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
62
..
62
|
C/T |
rs17032795
|
+ |
5'UTR |
|
98
..
98
|
C/T |
rs11544506
|
+ |
5'UTR |
|
104
..
104
|
C/T |
rs11544510
|
+ |
5'UTR |
|
186
..
186
|
G/T |
rs11544495
|
+ |
CDS |
Nonsynonymous[Arg15Leu] |
267
..
267
|
G/C |
rs11544503
|
+ |
CDS |
Nonsynonymous[Gly42Ala] |
273
..
273
|
A/G |
rs138834005
|
- |
CDS |
Nonsynonymous[Tyr44Cys] |
309
..
309
|
G/A |
rs201990176
|
- |
CDS |
Nonsynonymous[Arg56His] |
317
..
317
|
G/A |
rs142310173
|
- |
CDS |
Nonsynonymous[Gly59Arg] |
343
..
343
|
G/A |
rs28999074
|
+ |
CDS |
Synonymous[Glu67Glu] |
346
..
346
|
C/T |
rs201513751
|
- |
CDS |
Synonymous[His68His] |
351
..
351
|
A/G |
rs201867667
|
- |
CDS |
Nonsynonymous[Asn70Ser] |
365
..
365
|
C/A |
rs146938354
|
- |
CDS |
Nonsynonymous[Pro75Thr] |
373
..
373
|
G/A |
rs28999075
|
+ |
CDS |
Synonymous[Leu77Leu] |
374
..
374
|
G/T |
rs146619828
|
- |
CDS |
Nonsynonymous[Val78Phe] |
424
..
424
|
G/C |
rs11544491
|
+ |
CDS |
Nonsynonymous[Met94Ile] |
435
..
435
|
A/G |
rs201943492
|
- |
CDS |
Nonsynonymous[Asp98Gly] |
466
..
466
|
G/A |
rs200935067
|
- |
CDS |
Synonymous[Ala108Ala] |
494
..
494
|
G/A |
rs199529530
|
- |
CDS |
Nonsynonymous[Val118Ile] |
499
..
499
|
C/T |
rs11544507
|
+ |
CDS |
Synonymous[Cys119Cys] |
512
..
512
|
G/A/C |
rs11544519
|
+ |
CDS |
|
538
^
539
|
-/CC |
rs144538182
|
- |
CDS |
|
541
..
541
|
C/T |
rs11544497
|
+ |
CDS |
Synonymous[His133His] |
559
..
559
|
C/A |
rs142256351
|
- |
CDS |
Synonymous[Gly139Gly] |
637
..
637
|
G/C |
rs11544509
|
+ |
CDS |
Nonsynonymous[Met165Ile] |
673
..
673
|
C/A/T |
rs11544513
|
+ |
CDS |
|
709
..
709
|
C/T |
rs11544499
|
+ |
CDS |
Synonymous[Tyr189Tyr] |
711
..
711
|
A/G |
rs201627070
|
- |
CDS |
Nonsynonymous[His190Arg] |
728
..
728
|
A/G |
rs199771237
|
- |
CDS |
Nonsynonymous[Ile196Val] |
776
..
776
|
G/A |
rs201238976
|
- |
CDS |
Nonsynonymous[Gly212Arg] |
852
..
852
|
C/T |
rs148752848
|
- |
CDS |
Nonsynonymous[Thr237Ile] |
866
..
866
|
A/G |
rs138820314
|
- |
CDS |
Nonsynonymous[Ile242Val] |
869
..
869
|
G/A |
rs143707545
|
- |
CDS |
Nonsynonymous[Gly243Ser] |
877
..
877
|
C/G/T |
rs2230874
|
+ |
CDS |
|
882
..
882
|
C/T |
rs201508705
|
- |
CDS |
Nonsynonymous[Ala247Val] |
889
..
889
|
C/T |
rs143076849
|
- |
CDS |
Synonymous[Ser249Ser] |
890
..
890
|
G/C/T |
rs11544512
|
+ |
CDS |
|
1039
..
1039
|
T/C |
rs140944386
|
- |
CDS |
Synonymous[Asp299Asp] |
1116
..
1116
|
C/A |
rs11544514
|
+ |
CDS |
Nonsynonymous[Pro325Gln] |
1117
..
1117
|
A/C |
rs140674283
|
- |
CDS |
Synonymous[Pro325Pro] |
1129
..
1129
|
C/A |
rs3180139
|
+ |
CDS |
Synonymous[Ala329Ala] |
1141
..
1141
|
C/T |
rs146867004
|
- |
CDS |
Synonymous[Asn333Asn] |
1206
..
1206
|
A/C |
rs201636531
|
- |
CDS |
Nonsynonymous[Gln355Pro] |
1212
..
1212
|
G/A |
rs200008125
|
- |
CDS |
Nonsynonymous[Cys357Tyr] |
1230
..
1230
|
A/G |
rs151047591
|
- |
CDS |
Nonsynonymous[Asn363Ser] |
1256
..
1256
|
C/T |
rs150781341
|
- |
CDS |
Nonsynonymous[Arg372Cys] |
1260
..
1260
|
C/T |
rs143592223
|
- |
CDS |
Nonsynonymous[Ser373Leu] |
1265
..
1265
|
G/A |
rs3206672
|
+ |
CDS |
Nonsynonymous[Glu375Lys] |
1301
..
1301
|
G/C |
rs11544489
|
+ |
CDS |
Nonsynonymous[Gly387Arg] |
1350
..
1350
|
G/A |
rs201032262
|
- |
CDS |
Nonsynonymous[Arg403His] |
1380
..
1380
|
T/C |
rs201317089
|
- |
CDS |
Nonsynonymous[Ile413Thr] |
1390
..
1390
|
G/A |
rs193006639
|
- |
CDS |
Synonymous[Glu416Glu] |
1435
..
1435
|
C/T |
rs1065722
|
+ |
CDS |
Synonymous[Pro431Pro] |
1441
..
1441
|
C/A |
rs139671695
|
- |
CDS |
Synonymous[Ala433Ala] |
1447
..
1447
|
A/G |
rs138375821
|
- |
CDS |
Synonymous_atSTOP[*435*] |
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 |
|