Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
8
..
8
|
C/G |
rs200460052
|
+ |
5'UTR |
|
9
..
9
|
C/T |
rs201665306
|
+ |
5'UTR |
|
14
..
14
|
C/G |
rs200850386
|
+ |
5'UTR |
|
42
..
42
|
G/T |
rs188174412
|
+ |
CDS |
Synonymous[Ala2Ala] |
56
..
56
|
A/G |
rs41271527
|
+ |
CDS |
Nonsynonymous[Glu7Gly] |
185
..
185
|
C/T |
rs139841953
|
+ |
CDS |
Nonsynonymous[Pro50Leu] |
195
..
195
|
T/G |
rs12567597
|
+ |
CDS |
Synonymous[Leu53Leu] |
231
..
231
|
C/G |
rs2814526
|
+ |
CDS |
Synonymous[Pro65Pro] |
265
..
265
|
G/A |
rs201361420
|
+ |
CDS |
Nonsynonymous[Ala77Thr] |
289
..
289
|
G/A |
rs111297919
|
+ |
CDS |
Nonsynonymous[Gly85Ser] |
308
..
308
|
G/A |
rs181327519
|
+ |
CDS |
Nonsynonymous[Arg91His] |
322
..
322
|
C/T |
rs199742146
|
+ |
CDS |
Nonsynonymous[Leu96Phe] |
369
..
369
|
C/G |
rs61746495
|
+ |
CDS |
Synonymous[Thr111Thr] |
373
..
373
|
C/G |
rs200470414
|
+ |
CDS |
Nonsynonymous[Leu113Val] |
376
..
376
|
G/A |
rs201385301
|
+ |
CDS |
Nonsynonymous[Ala114Thr] |
401
..
401
|
C/T |
rs3766498
|
- |
CDS |
Nonsynonymous[Pro122Leu] |
459
..
459
|
C/G |
rs61736962
|
+ |
CDS |
Synonymous[Thr141Thr] |
493
..
493
|
G/A |
rs61746497
|
+ |
CDS |
Nonsynonymous[Gly153Arg] |
518
..
518
|
G/T |
rs3766497
|
- |
CDS |
Nonsynonymous[Arg161Leu] |
639
..
639
|
A/G |
rs200934993
|
+ |
CDS |
Synonymous[Thr201Thr] |
685
..
685
|
C/A |
rs186188102
|
+ |
CDS |
Nonsynonymous[Gln217Lys] |
725
..
725
|
C/G |
rs146845053
|
+ |
CDS |
Nonsynonymous[Ala230Gly] |
739
..
739
|
G/C |
rs200105069
|
+ |
CDS |
Nonsynonymous[Gly235Arg] |
774
..
774
|
G/A |
rs190242642
|
+ |
CDS |
Synonymous[Leu246Leu] |
869
..
869
|
A/G |
rs61739198
|
+ |
CDS |
Nonsynonymous[Asn278Ser] |
915
..
915
|
C/T |
rs181890143
|
+ |
CDS |
Synonymous[Asp293Asp] |
940
..
940
|
C/T |
rs200508444
|
+ |
CDS |
Nonsynonymous[Pro302Ser] |
1004
..
1004
|
T/G |
rs201495236
|
+ |
CDS |
Nonsynonymous[Ile323Ser] |
1015
..
1015
|
A/G |
rs202017337
|
+ |
CDS |
Nonsynonymous[Met327Val] |
1092
..
1092
|
A/G |
rs12048236
|
+ |
CDS |
Synonymous[Leu352Leu] |
1117
..
1117
|
G/A |
rs61735495
|
+ |
CDS |
Nonsynonymous[Glu361Lys] |
1214
..
1214
|
G/T |
rs200834253
|
+ |
CDS |
Nonsynonymous[Arg393Met] |
1236
..
1236
|
T/C |
rs77064011
|
+ |
CDS |
Synonymous[Ala400Ala] |
1248
..
1248
|
G/A |
rs76557656
|
+ |
CDS |
Synonymous[Glu404Glu] |
1310
..
1310
|
G/A |
rs140737636
|
+ |
CDS |
AA-STOP[Trp425*] |
1346
..
1346
|
C/T |
rs61738408
|
+ |
CDS |
Nonsynonymous[Ser437Phe] |
1387
..
1387
|
A/G |
rs59165168
|
+ |
CDS |
Nonsynonymous[Lys451Glu] |
1518
..
1518
|
G/T |
rs201554038
|
+ |
CDS |
Nonsynonymous[Arg494Ser] |
1520
..
1520
|
T/C |
rs202096626
|
+ |
CDS |
Nonsynonymous[Leu495Pro] |
1624
..
1624
|
C/A |
rs186922916
|
+ |
CDS |
Nonsynonymous[Gln530Lys] |
1644
..
1644
|
C/T |
rs201585981
|
+ |
CDS |
Synonymous[Phe536Phe] |
1687
..
1687
|
C/A |
rs200703556
|
- |
CDS |
Nonsynonymous[Gln551Lys] |
1751
..
1751
|
A/G |
rs200280379
|
+ |
CDS |
Nonsynonymous[Asn572Ser] |
1781
..
1781
|
T/C |
rs200170564
|
+ |
CDS |
Nonsynonymous[Val582Ala] |
2060
..
2060
|
A/G |
rs80140823
|
+ |
CDS |
Nonsynonymous[Asp675Gly] |
2115
..
2115
|
A/G |
rs145391233
|
+ |
CDS |
Synonymous[Glu693Glu] |
2151
..
2151
|
T/G |
rs199515947
|
+ |
CDS |
Synonymous[Ser705Ser] |
2171
..
2171
|
A/G |
rs192065433
|
+ |
CDS |
Nonsynonymous[Asp712Gly] |
2238
..
2238
|
T/C |
rs149142083
|
+ |
CDS |
Synonymous[Asn734Asn] |
2246
..
2246
|
A/G |
rs201620778
|
+ |
CDS |
Nonsynonymous[His737Arg] |
2255
..
2255
|
A/T |
rs143216007
|
+ |
CDS |
Nonsynonymous[Tyr740Phe] |
2315
..
2315
|
C/A |
rs200746267
|
+ |
CDS |
Nonsynonymous[Ser760Tyr] |
2343
..
2343
|
G/T |
rs183151807
|
+ |
CDS |
Synonymous[Gly769Gly] |
2354
..
2354
|
A/T |
rs61735509
|
+ |
CDS |
Nonsynonymous[His773Leu] |
2399
..
2399
|
T/C |
rs199764419
|
+ |
CDS |
Nonsynonymous[Leu788Ser] |
2433
..
2433
|
A/G |
rs185151613
|
+ |
CDS |
Synonymous[Leu799Leu] |
2535
..
2535
|
A/G |
rs189565787
|
+ |
CDS |
Synonymous[Thr833Thr] |
2587
..
2587
|
G/T |
rs200332587
|
+ |
CDS |
Nonsynonymous[Val851Leu] |
2598
..
2598
|
C/G |
rs201550699
|
+ |
CDS |
AA-STOP[Tyr854*] |
2616
..
2616
|
C/T |
rs147903928
|
+ |
CDS |
Synonymous[Ser860Ser] |
2628
..
2628
|
C/T |
rs200017148
|
+ |
CDS |
Synonymous[Val864Val] |
2653
..
2653
|
T/C |
rs202132336
|
+ |
CDS |
Nonsynonymous[Phe873Leu] |
2663
..
2663
|
G/A |
rs201346252
|
+ |
CDS |
Nonsynonymous[Gly876Asp] |
2666
..
2666
|
A/G |
rs141642246
|
+ |
CDS |
Nonsynonymous[Asn877Ser] |
2748
..
2748
|
A/G |
rs146032880
|
+ |
CDS |
Synonymous[Thr904Thr] |
2784
..
2784
|
A/C |
rs138806471
|
+ |
3'UTR |
|
2787
..
2787
|
T/C |
rs182538221
|
+ |
3'UTR |
|
2960
..
2960
|
G/A |
rs141243105
|
+ |
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 |
|