Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
7
..
7
|
C/T |
rs201041859
|
+ |
5'UTR |
|
16
..
16
|
T/C |
rs201225805
|
+ |
CDS |
Nonsynonymous[Met1Thr] |
45
..
45
|
T/C |
rs118035128
|
+ |
CDS |
Nonsynonymous[Cys11Arg] |
52
..
52
|
T/C |
rs144648249
|
+ |
CDS |
Nonsynonymous[Met13Thr] |
57
..
57
|
T/C |
rs191214937
|
+ |
CDS |
Nonsynonymous[Trp15Arg] |
78
..
78
|
T/C |
rs184129719
|
+ |
CDS |
Nonsynonymous[Trp22Arg] |
91
..
91
|
C/T |
rs79573699
|
+ |
CDS |
Nonsynonymous[Thr26Met] |
92
..
92
|
G/A |
rs149123211
|
+ |
CDS |
Synonymous[Thr26Thr] |
151
..
151
|
C/T |
rs187030197
|
+ |
CDS |
Nonsynonymous[Pro46Leu] |
211
..
211
|
A/C |
rs143191500
|
+ |
CDS |
Nonsynonymous[His66Pro] |
223
..
223
|
A/C |
rs199978808
|
+ |
CDS |
Nonsynonymous[Glu70Ala] |
224
..
224
|
A/G |
rs199855930
|
+ |
CDS |
Synonymous[Glu70Glu] |
230
..
230
|
C/T |
rs151210372
|
+ |
CDS |
Synonymous[Pro72Pro] |
232
..
232
|
A/T |
rs140351255
|
+ |
CDS |
Nonsynonymous[His73Leu] |
235
..
235
|
C/T |
rs145413249
|
+ |
CDS |
Nonsynonymous[Ala74Val] |
262
..
262
|
A/T |
rs137953698
|
+ |
CDS |
Nonsynonymous[Asp83Val] |
292
..
292
|
C/T |
rs142433491
|
+ |
CDS |
Nonsynonymous[Ser93Leu] |
315
..
315
|
G/A |
rs150100100
|
+ |
CDS |
Nonsynonymous[Glu101Lys] |
332
..
332
|
G/A |
rs138376837
|
+ |
CDS |
Synonymous[Leu106Leu] |
388
..
388
|
C/T |
rs201217119
|
+ |
CDS |
Nonsynonymous[Pro125Leu] |
389
..
389
|
G/A |
rs149234287
|
+ |
CDS |
Synonymous[Pro125Pro] |
397
..
397
|
C/A |
rs185347397
|
+ |
CDS |
Nonsynonymous[Ala128Asp] |
440
..
440
|
G/T |
rs144851744
|
+ |
CDS |
Nonsynonymous[Arg142Ser] |
443
..
443
|
C/T |
rs202129695
|
+ |
CDS |
Synonymous[Leu143Leu] |
458
..
458
|
G/A |
rs150135934
|
+ |
CDS |
Synonymous[Pro148Pro] |
460
..
460
|
T/A |
rs138697011
|
+ |
CDS |
Nonsynonymous[Leu149His] |
466
..
466
|
A/G |
rs144030936
|
+ |
CDS |
Nonsynonymous[Asn151Ser] |
468
..
468
|
C/T |
rs189879515
|
+ |
CDS |
Nonsynonymous[Arg152Trp] |
503
..
503
|
C/T |
rs141845881
|
+ |
CDS |
Synonymous[Arg163Arg] |
522
..
522
|
A/G |
rs200402261
|
+ |
CDS |
Nonsynonymous[Thr170Ala] |
525
..
525
|
G/T |
rs147293663
|
+ |
CDS |
Nonsynonymous[Asp171Tyr] |
535
..
535
|
G/A |
rs146284948
|
+ |
CDS |
Nonsynonymous[Arg174Gln] |
556
..
556
|
A/G |
rs140867569
|
+ |
CDS |
Nonsynonymous[Asp181Gly] |
597
..
597
|
A/C |
rs182506263
|
+ |
CDS |
Nonsynonymous[Thr195Pro] |
598
..
598
|
C/T |
rs139420223
|
+ |
CDS |
Nonsynonymous[Thr195Ile] |
653
..
653
|
C/A |
rs34912557
|
- |
CDS |
Nonsynonymous[Ser213Arg] |
654
..
654
|
C/T |
rs139257239
|
+ |
CDS |
Nonsynonymous[Leu214Phe] |
658
..
658
|
C/T |
rs77926367
|
+ |
CDS |
Nonsynonymous[Pro215Leu] |
666
..
666
|
G/A |
rs149975412
|
+ |
CDS |
Nonsynonymous[Val218Ile] |
700
..
700
|
G/A |
rs145638325
|
+ |
CDS |
Nonsynonymous[Arg229His] |
771
..
771
|
C/T |
rs140386485
|
+ |
CDS |
Nonsynonymous[Leu253Phe] |
774
..
774
|
C/A |
rs144111201
|
+ |
CDS |
Synonymous[Arg254Arg] |
782
..
782
|
C/T |
rs200519924
|
+ |
CDS |
Synonymous[Asn256Asn] |
783
..
783
|
G/T |
rs199817945
|
+ |
CDS |
Nonsynonymous[Ala257Ser] |
1054
..
1054
|
A/G |
rs146484667
|
+ |
CDS |
Nonsynonymous[His347Arg] |
1069
..
1069
|
A/G |
rs149337731
|
+ |
CDS |
Nonsynonymous[Lys352Arg] |
1150
..
1150
|
A/G |
rs200580074
|
+ |
CDS |
Nonsynonymous[Gln379Arg] |
1180
..
1180
|
C/T |
rs143084075
|
+ |
CDS |
Nonsynonymous[Ala389Val] |
1210
..
1210
|
C/T |
rs118103228
|
+ |
CDS |
Nonsynonymous[Thr399Ile] |
1213
..
1213
|
A/C |
rs140109047
|
+ |
CDS |
Nonsynonymous[Asp400Ala] |
1215
..
1215
|
C/T |
rs201490924
|
+ |
CDS |
Nonsynonymous[Pro401Ser] |
1268
..
1268
|
T/G |
rs150293228
|
+ |
CDS |
Synonymous[Ala418Ala] |
1320
..
1320
|
A/G |
rs199856751
|
+ |
CDS |
Nonsynonymous[Ser436Gly] |
1355
..
1355
|
G/A |
rs144689537
|
+ |
CDS |
Synonymous[Pro447Pro] |
1371
..
1371
|
G/A |
rs200653463
|
+ |
CDS |
Nonsynonymous[Glu453Lys] |
1396
..
1396
|
C/T |
rs144094254
|
+ |
CDS |
Nonsynonymous[Pro461Leu] |
1432
..
1432
|
T/C |
rs147310441
|
+ |
CDS |
Nonsynonymous[Ile473Thr] |
1451
..
1451
|
G/A |
rs139255719
|
+ |
CDS |
Synonymous[Leu479Leu] |
1526
..
1526
|
T/A |
rs8068145
|
+ |
CDS |
Synonymous[Pro504Pro] |
1531
..
1531
|
A/G |
rs144746322
|
+ |
CDS |
Nonsynonymous[Lys506Arg] |
1573
..
1573
|
C/T |
rs148524381
|
+ |
CDS |
Nonsynonymous[Ala520Val] |
1578
..
1578
|
G/C |
rs142826230
|
+ |
CDS |
Nonsynonymous[Glu522Gln] |
1599
..
1599
|
A/G |
rs58002156
|
- |
CDS |
Nonsynonymous[Ser529Gly] |
1622
..
1622
|
C/T |
rs1044847
|
+ |
CDS |
Synonymous[Cys536Cys] |
1628
..
1628
|
C/T |
rs146053152
|
+ |
CDS |
Synonymous[Cys538Cys] |
1641
..
1641
|
C/G |
rs1044849
|
+ |
CDS |
Nonsynonymous[Leu543Val] |
1650
..
1650
|
G/A |
rs1044850
|
+ |
CDS |
Nonsynonymous[Val546Ile] |
1654
..
1654
|
G/A |
rs1044851
|
+ |
CDS |
Nonsynonymous[Gly547Asp] |
1660
..
1660
|
G/A |
rs1044852
|
+ |
CDS |
Nonsynonymous[Ser549Asn] |
1665
..
1665
|
A/G |
rs1044853
|
+ |
CDS |
Nonsynonymous[Lys551Glu] |
1700
..
1700
|
C/G |
rs201331452
|
+ |
CDS |
Synonymous[Pro562Pro] |
1703
..
1703
|
C/T |
rs139457390
|
+ |
CDS |
Synonymous[Asp563Asp] |
1748
..
1748
|
T/C |
rs144144091
|
+ |
CDS |
Synonymous[Tyr578Tyr] |
1758
..
1758
|
C/A |
rs199689901
|
+ |
CDS |
Nonsynonymous[Leu582Ile] |
1758
..
1758
|
C/A |
rs569874
|
+ |
CDS |
Nonsynonymous[Leu582Ile] |
1796
^
1797
|
-/G |
rs35825325
|
+ |
CDS |
|
1834
..
1834
|
C/A |
rs146503923
|
+ |
CDS |
Nonsynonymous[Pro607His] |
1834
..
1834
|
C/A |
rs2449791
|
- |
CDS |
Nonsynonymous[Pro607His] |
1861
..
1861
|
A/C |
rs2449790
|
- |
CDS |
Nonsynonymous[Tyr616Ser] |
1880
..
1880
|
C/G/T |
rs112535435
|
+ |
CDS |
|
1884
..
1884
|
C/T |
rs202063240
|
+ |
CDS |
Nonsynonymous[Arg624Cys] |
1902
..
1902
|
G/A |
rs137899779
|
+ |
CDS |
Nonsynonymous[Val630Ile] |
1905
..
1905
|
G/A |
rs141921890
|
+ |
CDS |
Nonsynonymous[Glu631Lys] |
1913
..
1913
|
A/C |
rs201112439
|
+ |
CDS |
Synonymous[Pro633Pro] |
1978
..
1978
|
C/T |
rs146905900
|
+ |
CDS |
Nonsynonymous[Thr655Ile] |
2041
..
2041
|
C/T |
rs1638299
|
- |
CDS |
Nonsynonymous[Ala676Val] |
2089
..
2089
|
C/G |
rs139322675
|
+ |
CDS |
Nonsynonymous[Thr692Arg] |
2105
..
2105
|
C/T |
rs199662103
|
+ |
CDS |
Synonymous[Cys697Cys] |
2109
..
2109
|
A/T |
rs139560584
|
+ |
CDS |
Nonsynonymous[Thr699Ser] |
2116
..
2116
|
G/A |
rs201551794
|
+ |
CDS |
Nonsynonymous[Cys701Tyr] |
2146
..
2146
|
A/C |
rs138060086
|
+ |
CDS |
Nonsynonymous[Glu711Ala] |
2174
..
2174
|
G/A |
rs2627098
|
+ |
CDS |
Synonymous[Ala720Ala] |
2197
..
2197
|
G/A |
rs142657514
|
+ |
CDS |
Nonsynonymous[Arg728Gln] |
2207
..
2207
|
C/T |
rs146073679
|
+ |
CDS |
Synonymous[His731His] |
2226
..
2226
|
A/G |
rs140028629
|
+ |
CDS |
Nonsynonymous[Ile738Val] |
2233
..
2233
|
C/T |
rs200220556
|
+ |
CDS |
Nonsynonymous[Ser740Leu] |
2367
..
2367
|
C/T |
rs2530814
|
+ |
CDS |
Nonsynonymous[Arg785Trp] |
2393
..
2393
|
A/C |
rs141908834
|
+ |
CDS |
Nonsynonymous[Glu793Asp] |
2428
..
2428
|
T/C |
rs139379458
|
+ |
CDS |
Nonsynonymous[Leu805Ser] |
2428
..
2428
|
T/C |
rs2627107
|
+ |
CDS |
Nonsynonymous[Leu805Ser] |
2434
..
2434
|
C/T |
rs199877645
|
+ |
CDS |
Nonsynonymous[Thr807Ile] |
2500
..
2500
|
C/T |
rs148686604
|
+ |
CDS |
Nonsynonymous[Thr829Met] |
2501
..
2501
|
G/A |
rs142181710
|
+ |
CDS |
Synonymous[Thr829Thr] |
2595
..
2595
|
G/T |
rs1843084
|
+ |
CDS |
Nonsynonymous[Asp861Tyr] |
2639
..
2639
|
A/C |
rs2344318
|
+ |
CDS |
Synonymous[Val875Val] |
2657
..
2657
|
T/G |
rs139116171
|
+ |
CDS |
Nonsynonymous[Ile881Met] |
2670
..
2670
|
C/T |
rs1843085
|
+ |
CDS |
Nonsynonymous[Leu886Phe] |
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 |
|