Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
28
..
28
|
A/G |
rs79410903
|
- |
5'UTR |
|
32
..
32
|
T/C |
rs143987544
|
- |
5'UTR |
|
36
..
36
|
C/T |
rs201780377
|
- |
5'UTR |
|
54
..
54
|
C/G |
rs28365839
|
+ |
5'UTR |
|
55
..
55
|
A/G |
rs76455588
|
- |
5'UTR |
|
61
..
61
|
C/T |
rs2070188
|
+ |
5'UTR |
|
65
..
65
|
A/T |
rs121918106
|
+ |
CDS |
Nonsynonymous[Met1Leu] |
80
..
80
|
C/T |
rs148279196
|
- |
CDS |
Nonsynonymous[Leu6Phe] |
100
..
100
|
C/G |
rs11555014
|
+ |
CDS |
Synonymous[Gly12Gly] |
112
..
112
|
C/T |
rs199808371
|
- |
CDS |
Synonymous[Ala16Ala] |
124
..
124
|
T/C |
rs188252882
|
- |
CDS |
Synonymous[Leu20Leu] |
131
..
131
|
A/G |
rs143016278
|
- |
CDS |
Nonsynonymous[Lys23Glu] |
135
^
136
|
-/A |
rs34228343
|
- |
CDS |
|
142
..
142
|
C/T |
rs74145688
|
- |
CDS |
Synonymous[Thr26Thr] |
147
..
147
|
G/T |
rs185057837
|
- |
CDS |
Nonsynonymous[Gly28Val] |
152
..
152
|
G/T |
rs144942998
|
- |
CDS |
Nonsynonymous[Ala30Ser] |
158
..
158
|
T/G |
rs200008050
|
- |
CDS |
Nonsynonymous[Trp32Gly] |
177
..
177
|
C/T |
rs145181011
|
- |
CDS |
Nonsynonymous[Thr38Met] |
181
..
181
|
G/A |
rs200836594
|
- |
CDS |
Synonymous[Ala39Ala] |
184
..
184
|
C/T |
rs141231601
|
- |
CDS |
Synonymous[Ser40Ser] |
211
..
211
|
G/A |
rs112119208
|
- |
CDS |
Synonymous[Leu49Leu] |
217
..
217
|
C/T |
rs11555016
|
+ |
CDS |
Synonymous[Thr51Thr] |
218
..
218
|
G/A |
rs147920923
|
- |
CDS |
Nonsynonymous[Val52Ile] |
253
..
253
|
C/T |
rs111369573
|
- |
CDS |
Synonymous[Cys63Cys] |
268
..
268
|
C/T |
rs143981174
|
- |
CDS |
Synonymous[Asp68Asp] |
278
..
278
|
G/A |
rs150701404
|
- |
CDS |
Nonsynonymous[Ala72Thr] |
281
..
281
|
G/A |
rs11555015
|
+ |
CDS |
Nonsynonymous[Ala73Thr] |
409
..
409
|
T/G |
rs11555017
|
+ |
CDS |
Synonymous[Pro115Pro] |
422
..
422
|
A/G |
rs142784765
|
- |
CDS |
Nonsynonymous[Ile120Val] |
443
..
443
|
C/T |
rs148519599
|
- |
CDS |
Nonsynonymous[Arg127Cys] |
552
..
552
|
A/T |
rs146301708
|
- |
CDS |
Nonsynonymous[Asp163Val] |
604
..
604
|
C/T |
rs11555021
|
+ |
CDS |
Synonymous[Tyr180Tyr] |
613
..
613
|
C/T |
rs142002239
|
- |
CDS |
Synonymous[Asp183Asp] |
620
..
620
|
C/T |
rs193088462
|
- |
CDS |
Nonsynonymous[Arg186Cys] |
621
..
621
|
G/A |
rs138880818
|
- |
CDS |
Nonsynonymous[Arg186His] |
629
..
629
|
C/T |
rs188854022
|
- |
CDS |
Nonsynonymous[Pro189Ser] |
634
..
634
|
G/T |
rs142272618
|
- |
CDS |
Nonsynonymous[Gln190His] |
641
..
641
|
G/C |
rs149305591
|
- |
CDS |
Nonsynonymous[Asp193His] |
642
..
642
|
A/G |
rs138636858
|
- |
CDS |
Nonsynonymous[Asp193Gly] |
646
..
646
|
T/C |
rs150177878
|
- |
CDS |
Synonymous[Asn194Asn] |
653
..
653
|
G/A |
rs191952316
|
- |
CDS |
Nonsynonymous[Val197Ile] |
680
..
680
|
A/G |
rs139503658
|
- |
CDS |
Nonsynonymous[Thr206Ala] |
685
..
685
|
C/T |
rs140702696
|
- |
CDS |
Synonymous[Asp207Asp] |
687
..
687
|
T/G |
rs200319381
|
- |
CDS |
Nonsynonymous[Ile208Ser] |
701
..
701
|
C/T |
rs150521779
|
- |
CDS |
Nonsynonymous[Arg213Trp] |
707
..
707
|
A/C |
rs121918107
|
+ |
CDS |
Nonsynonymous[Asn215His] |
714
..
714
|
C/T |
rs121918103
|
+ |
CDS |
Nonsynonymous[Thr217Ile] |
759
..
759
|
G/T |
rs147265566
|
- |
CDS |
Nonsynonymous[Arg232Leu] |
761
..
761
|
C/T/G |
rs146934980
|
- |
CDS |
|
778
..
778
|
C/G |
rs141199649
|
- |
CDS |
Synonymous[Ala238Ala] |
786
..
786
|
G/C |
rs121918104
|
+ |
CDS |
Nonsynonymous[Cys241Ser] |
787
..
787
|
C/T |
rs147805036
|
- |
CDS |
Synonymous[Cys241Cys] |
796
..
796
|
T/C |
rs146732171
|
- |
CDS |
Synonymous[Tyr244Tyr] |
805
..
805
|
G/T |
rs202069470
|
- |
CDS |
Nonsynonymous[Gln247His] |
844
..
844
|
G/C |
rs112041816
|
- |
CDS |
Nonsynonymous[Gln260His] |
847
..
847
|
T/A |
rs113827790
|
- |
CDS |
Nonsynonymous[Asp261Glu] |
871
..
871
|
G/A |
rs199672678
|
- |
CDS |
Synonymous[Ala269Ala] |
895
..
895
|
G/A |
rs149202005
|
- |
CDS |
Synonymous[Val277Val] |
938
..
938
|
T/C |
rs145404688
|
- |
CDS |
Nonsynonymous[Ser292Pro] |
967
..
967
|
G/A |
rs150048951
|
- |
CDS |
Synonymous[Leu301Leu] |
987
..
987
|
A/G |
rs113554687
|
- |
CDS |
Nonsynonymous[His308Arg] |
1013
..
1013
|
T/C |
rs202041927
|
- |
CDS |
Nonsynonymous[Tyr317His] |
1039
..
1039
|
G/A |
rs139413990
|
- |
CDS |
Synonymous[Val325Val] |
1090
..
1090
|
C/T |
rs146778046
|
- |
CDS |
Synonymous[Leu342Leu] |
1093
..
1093
|
C/T |
rs113679008
|
- |
CDS |
Synonymous[Asp343Asp] |
1102
..
1102
|
C/A |
rs199650747
|
- |
CDS |
Nonsynonymous[Asp346Glu] |
1119
..
1119
|
T/C |
rs121918110
|
+ |
CDS |
Nonsynonymous[Leu352Pro] |
1122
..
1122
|
C/T |
rs201129306
|
- |
CDS |
Nonsynonymous[Pro353Leu] |
1129
..
1129
|
C/T |
rs138328594
|
- |
CDS |
Synonymous[Ser355Ser] |
1161
..
1161
|
C/T |
rs140066253
|
- |
CDS |
Nonsynonymous[Thr366Met] |
1165
..
1165
|
C/T |
rs200226479
|
- |
CDS |
Synonymous[Tyr367Tyr] |
1195
..
1195
|
G/A |
rs146102517
|
- |
CDS |
Synonymous[Glu377Glu] |
1217
..
1217
|
T/G |
rs121918108
|
+ |
CDS |
Nonsynonymous[Cys385Gly] |
1218
..
1218
|
G/T |
rs121918105
|
+ |
CDS |
Nonsynonymous[Cys385Phe] |
1237
..
1237
|
C/T |
rs141254386
|
- |
CDS |
Synonymous[Cys391Cys] |
1245
..
1245
|
C/T |
rs202125074
|
- |
CDS |
Nonsynonymous[Thr394Met] |
1300
..
1300
|
C/T |
rs147030327
|
- |
CDS |
Synonymous[Cys412Cys] |
1315
..
1315
|
G/T |
rs1803650
|
+ |
CDS |
Nonsynonymous[Lys417Asn] |
1352
..
1352
|
A/G |
rs148676984
|
- |
CDS |
Nonsynonymous[Ser430Gly] |
1355
..
1355
|
A/G |
rs200379457
|
- |
CDS |
Nonsynonymous[Thr431Ala] |
1361
..
1361
|
C/T |
rs121918109
|
+ |
CDS |
AA-STOP[Gln433*] |
1369
..
1369
|
C/T |
rs144042454
|
- |
CDS |
Synonymous[Ile435Ile] |
1384
..
1384
|
G/A |
rs149525964
|
- |
CDS |
Synonymous[Glu440Glu] |
1411
..
1411
|
T/C |
rs138217875
|
- |
CDS |
Synonymous[Pro449Pro] |
1447
..
1447
|
C/T |
rs146925179
|
- |
CDS |
Synonymous[Tyr461Tyr] |
1453
..
1453
|
C/T |
rs1049882
|
+ |
CDS |
Synonymous[Pro463Pro] |
1454
..
1454
|
G/A |
rs138716613
|
- |
CDS |
Nonsynonymous[Val464Met] |
1525
..
1525
|
G/A |
rs114389264
|
- |
CDS |
Synonymous[Ser487Ser] |
1534
..
1534
|
G/A |
rs140777530
|
- |
CDS |
Synonymous[Lys490Lys] |
1549
..
1549
|
T/C |
rs139178900
|
- |
CDS |
Synonymous[Thr495Thr] |
1568
..
1568
|
C/T |
rs143773764
|
- |
CDS |
Nonsynonymous[Pro502Ser] |
1592
..
1592
|
G/C |
rs149000433
|
- |
CDS |
Nonsynonymous[Glu510Gln] |
1664
..
1664
|
A/T |
rs199602243
|
- |
3'UTR |
|
1734
..
1734
|
T/C |
rs187964417
|
- |
3'UTR |
|
1741
..
1741
|
T/C |
rs183945494
|
- |
3'UTR |
|
1762
^
1763
|
-/C |
rs71480591
|
- |
3'UTR |
|
1765
^
1766
|
-/C |
rs36076120
|
- |
3'UTR |
|
1768
..
1768
|
C/G |
rs191704547
|
- |
3'UTR |
|
1770
..
1770
|
C/G |
rs113284884
|
- |
3'UTR |
|
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 |
|