Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
87
..
87
|
C/T |
rs148087564
|
+ |
CDS |
Synonymous[Phe6Phe] |
87
..
87
|
C/T |
rs6681090
|
+ |
CDS |
Synonymous[Phe6Phe] |
197
..
197
|
C/T |
rs59388251
|
+ |
CDS |
Nonsynonymous[Thr43Ile] |
208
..
208
|
C/T |
rs149249317
|
+ |
CDS |
Nonsynonymous[Pro47Ser] |
231
..
231
|
C/G |
rs181249089
|
+ |
CDS |
Synonymous[Leu54Leu] |
238
..
238
|
C/T |
rs10917661
|
+ |
CDS |
AA-STOP[Gln57*] |
249
..
249
|
C/T |
rs138208658
|
+ |
CDS |
Synonymous[Asn60Asn] |
258
..
258
|
G/A |
rs5017568
|
+ |
CDS |
Synonymous[Gln63Gln] |
288
..
288
|
G/A |
rs144573139
|
+ |
CDS |
Synonymous[Gly73Gly] |
307
..
307
|
G/A |
rs149985147
|
+ |
CDS |
Nonsynonymous[Asp80Asn] |
312
..
312
|
C/T |
rs148030870
|
+ |
CDS |
Synonymous[Ser81Ser] |
317
..
317
|
A/C |
rs5017567
|
+ |
CDS |
Nonsynonymous[Gln83Pro] |
337
..
337
|
C/T |
rs141422960
|
+ |
CDS |
Nonsynonymous[Leu90Phe] |
354
..
354
|
G/T |
rs201949883
|
+ |
CDS |
Synonymous[Thr95Thr] |
405
..
405
|
G/A |
rs6665610
|
+ |
CDS |
Synonymous[Thr112Thr] |
433
..
433
|
G/A |
rs143061521
|
+ |
CDS |
Nonsynonymous[Asp122Asn] |
438
..
438
|
T/C |
rs140047756
|
+ |
CDS |
Synonymous[Pro123Pro] |
470
..
470
|
T/G |
rs200112434
|
+ |
CDS |
Nonsynonymous[Val134Gly] |
527
..
527
|
A/G |
rs61731480
|
+ |
CDS |
Nonsynonymous[His153Arg] |
576
..
576
|
A/C |
rs112318761
|
+ |
CDS |
Synonymous[Gly169Gly] |
677
..
677
|
C/T |
rs137950262
|
+ |
CDS |
Nonsynonymous[Thr203Met] |
678
..
678
|
G/A |
rs146214041
|
+ |
CDS |
Synonymous[Thr203Thr] |
678
..
678
|
G/A |
rs2298022
|
+ |
CDS |
Synonymous[Thr203Thr] |
681
..
681
|
G/A |
rs182968886
|
+ |
CDS |
Synonymous[Leu204Leu] |
683
..
683
|
A/T |
rs149301029
|
+ |
CDS |
Nonsynonymous[Tyr205Phe] |
683
..
683
|
A/T |
rs1050499
|
+ |
CDS |
Nonsynonymous[Tyr205Phe] |
764
..
764
|
T/C |
rs1050501
|
+ |
CDS |
Nonsynonymous[Ile232Thr] |
860
..
860
|
A/G |
rs193030032
|
+ |
CDS |
Nonsynonymous[Lys264Arg] |
872
..
872
|
A/C |
rs146056650
|
+ |
CDS |
Nonsynonymous[Glu268Ala] |
903
..
903
|
C/T |
rs115842547
|
+ |
CDS |
Synonymous[His278His] |
914
..
914
|
T/C |
rs61804185
|
+ |
CDS |
Nonsynonymous[Leu282Pro] |
945
..
945
|
G/A |
rs201916910
|
+ |
CDS |
Synonymous_atSTOP[*292*] |
962
..
962
|
T/C |
rs72554670
|
+ |
3'UTR |
|
966
^
967
|
-/T |
rs36068674
|
+ |
3'UTR |
|
1131
..
1131
|
A/G |
rs1043
|
+ |
3'UTR |
|
1135
..
1135
|
G/A |
rs844
|
+ |
3'UTR |
|
1149
..
1149
|
T/G |
rs1050519
|
+ |
3'UTR |
|
1161
..
1161
|
C/T |
rs60519172
|
+ |
3'UTR |
|
1211
..
1211
|
A/G |
rs77142736
|
+ |
3'UTR |
|
1275
..
1275
|
G/C |
rs142007051
|
+ |
3'UTR |
|
1289
..
1289
|
G/C |
rs1050522
|
+ |
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 |
|