Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
23
..
23
|
C/G |
rs113099131
|
+ |
5'UTR |
|
26
..
26
|
G/A |
rs144713518
|
+ |
5'UTR |
|
60
..
60
|
C/T |
rs187464121
|
+ |
5'UTR |
|
72
..
72
|
C/A |
rs115940535
|
+ |
5'UTR |
|
185
..
185
|
G/A |
rs11546260
|
+ |
5'UTR |
|
315
..
315
|
C/T |
rs11546258
|
+ |
5'UTR |
|
405
..
405
|
C/T |
rs148535877
|
+ |
5'UTR |
|
472
..
472
|
T/C |
rs146942171
|
+ |
CDS |
Synonymous[Arg8Arg] |
497
..
497
|
G/T |
rs138010981
|
+ |
CDS |
Nonsynonymous[Ala17Ser] |
531
..
531
|
A/G |
rs141698844
|
+ |
CDS |
Nonsynonymous[Asn28Ser] |
532
..
532
|
T/C |
rs200102613
|
+ |
CDS |
Synonymous[Asn28Asn] |
605
..
605
|
G/C |
rs150137023
|
+ |
CDS |
Nonsynonymous[Val53Leu] |
626
..
626
|
C/T |
rs201213634
|
+ |
CDS |
Synonymous[Leu60Leu] |
640
..
640
|
G/C |
rs201246554
|
+ |
CDS |
Synonymous[Val64Val] |
676
..
676
|
C/T |
rs111588500
|
+ |
CDS |
Synonymous[Asp76Asp] |
757
..
757
|
C/T |
rs146256291
|
+ |
CDS |
Synonymous[Ala103Ala] |
801
..
801
|
C/A |
rs117500243
|
+ |
CDS |
Nonsynonymous[Ala118Asp] |
807
..
807
|
T/C |
rs74445699
|
+ |
CDS |
Nonsynonymous[Val120Ala] |
818
..
818
|
G/T |
rs146274588
|
+ |
CDS |
Nonsynonymous[Ala124Ser] |
819
..
819
|
C/T |
rs200753132
|
+ |
CDS |
Nonsynonymous[Ala124Val] |
832
..
832
|
G/A |
rs140003920
|
+ |
CDS |
Synonymous[Ser128Ser] |
858
..
858
|
G/A |
rs199864300
|
+ |
CDS |
Nonsynonymous[Ser137Asn] |
926
..
926
|
G/A |
rs141953803
|
+ |
CDS |
Nonsynonymous[Val160Met] |
946
..
946
|
T/C |
rs146310658
|
+ |
CDS |
Synonymous[Gly166Gly] |
976
..
976
|
C/T |
rs148530003
|
+ |
CDS |
Synonymous[Pro176Pro] |
982
..
982
|
C/T |
rs142879103
|
+ |
CDS |
Synonymous[Asn178Asn] |
983
..
983
|
G/A |
rs151081625
|
+ |
CDS |
Nonsynonymous[Gly179Ser] |
999
..
999
|
C/A |
rs202232509
|
+ |
CDS |
Nonsynonymous[Pro184Gln] |
1003
..
1003
|
C/T |
rs74370046
|
+ |
CDS |
Synonymous[Leu185Leu] |
1016
..
1016
|
C/T |
rs201705744
|
+ |
CDS |
Nonsynonymous[Arg190Cys] |
1046
..
1046
|
C/T |
rs200455766
|
+ |
CDS |
Synonymous[Leu200Leu] |
1054
..
1054
|
C/T |
rs187632310
|
+ |
CDS |
Synonymous[Ala202Ala] |
1061
..
1061
|
G/A |
rs144883729
|
+ |
CDS |
Nonsynonymous[Val205Ile] |
1091
..
1091
|
C/T |
rs147954962
|
+ |
CDS |
Synonymous[Leu215Leu] |
1105
..
1105
|
G/A |
rs141909863
|
+ |
CDS |
Synonymous[Pro219Pro] |
1228
..
1228
|
C/T |
rs200533281
|
+ |
CDS |
Synonymous[Thr260Thr] |
1270
..
1270
|
C/A |
rs145009003
|
+ |
CDS |
Synonymous[Ala274Ala] |
1272
..
1272
|
G/A |
rs144912258
|
+ |
CDS |
Nonsynonymous[Arg275His] |
1366
..
1366
|
G/A |
rs149050347
|
+ |
CDS |
Synonymous[Gly306Gly] |
1368
..
1368
|
G/A |
rs143091206
|
+ |
CDS |
Nonsynonymous[Arg307His] |
1464
..
1464
|
T/C |
rs148234606
|
+ |
CDS |
Nonsynonymous[Leu339Pro] |
1465
..
1465
|
G/C |
rs140307485
|
+ |
CDS |
Synonymous[Leu339Leu] |
1487
..
1487
|
G/A |
rs145502954
|
+ |
CDS |
Nonsynonymous[Val347Met] |
1513
..
1513
|
G/T |
rs200618841
|
+ |
CDS |
Synonymous[Ala355Ala] |
1514
..
1514
|
C/T |
rs138107380
|
+ |
CDS |
Synonymous[Leu356Leu] |
1522
..
1522
|
C/T |
rs142697341
|
+ |
CDS |
Synonymous[Val358Val] |
1537
..
1537
|
G/A |
rs146292053
|
+ |
CDS |
Synonymous[Pro363Pro] |
1554
..
1554
|
C/T |
rs138160033
|
+ |
CDS |
Nonsynonymous[Ser369Leu] |
1561
..
1561
|
G/A |
rs149575570
|
+ |
CDS |
Synonymous[Gly371Gly] |
1564
..
1564
|
C/G |
rs200631895
|
+ |
CDS |
Synonymous[Val372Val] |
1566
..
1566
|
T/G |
rs200245353
|
+ |
CDS |
Nonsynonymous[Val373Gly] |
1570
..
1570
|
C/T |
rs144290224
|
+ |
CDS |
Synonymous[Leu374Leu] |
1611
..
1611
|
A/G |
rs148754028
|
+ |
CDS |
Nonsynonymous[Tyr388Cys] |
1645
..
1645
|
C/T |
rs144821688
|
+ |
CDS |
Synonymous[Gly399Gly] |
1675
..
1675
|
C/T |
rs147518188
|
+ |
CDS |
Synonymous[Gly409Gly] |
1687
..
1687
|
G/A |
rs140177553
|
+ |
CDS |
Synonymous[Gln413Gln] |
1705
..
1705
|
C/T |
rs199767089
|
+ |
CDS |
Synonymous[Gly419Gly] |
1725
..
1725
|
C/T |
rs201673476
|
+ |
CDS |
Nonsynonymous[Pro426Leu] |
1741
..
1741
|
C/T |
rs184190914
|
+ |
CDS |
Synonymous[His431His] |
1742
..
1742
|
G/A |
rs202178971
|
+ |
CDS |
Nonsynonymous[Val432Met] |
1768
..
1768
|
A/G |
rs189845609
|
+ |
CDS |
Synonymous[Ala440Ala] |
1769
..
1769
|
G/T |
rs75165898
|
+ |
CDS |
Nonsynonymous[Asp441Tyr] |
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 |
|