Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
25
..
25
|
A/T |
rs56222262
|
- |
5'UTR |
|
206
..
206
|
C/T |
rs150944796
|
- |
5'UTR |
|
209
..
209
|
T/G |
rs4446963
|
- |
5'UTR |
|
253
..
253
|
G/A |
rs142560425
|
- |
5'UTR |
|
311
..
311
|
T/C |
rs139600342
|
- |
CDS |
Nonsynonymous[Phe12Ser] |
370
..
370
|
A/G |
rs192136979
|
- |
CDS |
Nonsynonymous[Ile32Val] |
373
..
373
|
G/A |
rs703145
|
- |
CDS |
Nonsynonymous[Gly33Arg] |
425
..
425
|
C/G |
rs187267455
|
- |
CDS |
Nonsynonymous[Pro50Arg] |
474
..
474
|
A/T |
rs184102006
|
- |
CDS |
Synonymous[Thr66Thr] |
475
..
475
|
A/C |
rs78458363
|
- |
CDS |
Nonsynonymous[Thr67Pro] |
540
..
540
|
C/T |
rs703144
|
- |
CDS |
Synonymous[Gly88Gly] |
621
..
621
|
C/T |
rs147347963
|
- |
CDS |
Synonymous[Tyr115Tyr] |
659
..
659
|
T/C |
rs432335
|
- |
CDS |
Nonsynonymous[Met128Thr] |
855
..
855
|
C/A |
rs116342313
|
- |
CDS |
Synonymous[Ile193Ile] |
859
..
859
|
G/A |
rs140993349
|
- |
CDS |
Nonsynonymous[Ala195Thr] |
878
..
878
|
C/A |
rs147328599
|
- |
CDS |
Nonsynonymous[Ser201Tyr] |
895
..
895
|
C/T |
rs703143
|
- |
CDS |
Nonsynonymous[Leu207Phe] |
959
..
959
|
C/A |
rs200647121
|
- |
CDS |
Nonsynonymous[Ala228Asp] |
994
..
994
|
C/T |
rs10489842
|
- |
CDS |
Synonymous[Leu240Leu] |
995
..
995
|
T/C/A |
rs387817
|
- |
CDS |
|
1004
..
1004
|
A/G |
rs149602500
|
- |
CDS |
Nonsynonymous[Tyr243Cys] |
1046
..
1046
|
T/G |
rs192379873
|
- |
CDS |
Nonsynonymous[Phe257Cys] |
1125
..
1125
|
T/C |
rs16840708
|
- |
CDS |
Synonymous[Phe283Phe] |
1214
..
1214
|
G/A |
rs187758200
|
- |
3'UTR |
|
1230
..
1230
|
A/T |
rs138271279
|
- |
3'UTR |
|
1232
..
1232
|
G/A |
rs12079053
|
- |
3'UTR |
|
1310
..
1310
|
T/C |
rs431919
|
- |
3'UTR |
|
1328
..
1328
|
T/A |
rs150889162
|
- |
3'UTR |
|
1345
..
1345
|
C/T |
rs115472123
|
- |
3'UTR |
|
1395
..
1395
|
G/A |
rs394285
|
- |
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
|
Type |
Start |
End |
Strand |
L2a |
1 |
110 |
+ |
|