Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
30
..
30
|
T/-/C |
rs35484727
|
- |
5'UTR |
|
30
^
31
|
-/GGCGGC |
rs3046363
|
- |
5'UTR |
|
32
..
32
|
G/-/TGG/CGGCGGTGG |
rs34507784
|
- |
5'UTR |
|
46
^
47
|
-/CGGCGG |
rs72422475
|
- |
5'UTR |
|
47
^
48
|
-/GGCGGC |
rs72207668
|
- |
5'UTR |
|
48
^
49
|
-/GCGGCG |
rs72055021
|
- |
5'UTR |
|
164
..
164
|
A/G |
rs2306941
|
- |
5'UTR |
|
378
..
378
|
G/A |
rs61821692
|
- |
CDS |
Nonsynonymous[Gly32Ser] |
454
..
454
|
G/A |
rs55655202
|
- |
CDS |
Nonsynonymous[Arg57His] |
460
..
460
|
A/G |
rs140935116
|
- |
CDS |
Nonsynonymous[Tyr59Cys] |
513
..
513
|
A/G |
rs201376490
|
- |
CDS |
Nonsynonymous[Lys77Glu] |
527
..
527
|
C/T |
rs200064313
|
- |
CDS |
Synonymous[Leu81Leu] |
528
..
528
|
G/A |
rs187540054
|
- |
CDS |
Nonsynonymous[Gly82Arg] |
557
..
557
|
C/T |
rs200298102
|
- |
CDS |
Synonymous[Phe91Phe] |
558
..
558
|
G/A |
rs201168871
|
- |
CDS |
Nonsynonymous[Val92Ile] |
601
..
601
|
G/A |
rs147306941
|
- |
CDS |
Nonsynonymous[Ser106Asn] |
667
..
667
|
G/A |
rs148596386
|
- |
CDS |
Nonsynonymous[Arg128His] |
685
..
685
|
G/T |
rs61821670
|
- |
CDS |
Nonsynonymous[Gly134Val] |
730
^
731
|
-/A |
rs35945588
|
- |
CDS |
|
765
..
765
|
G/A |
rs149352120
|
- |
CDS |
Nonsynonymous[Ala161Thr] |
871
..
871
|
T/C |
rs112007604
|
- |
CDS |
Nonsynonymous[Val196Ala] |
872
..
872
|
G/A |
rs28914528
|
+ |
CDS |
Synonymous[Val196Val] |
1097
..
1097
|
C/T |
rs180770623
|
- |
CDS |
Synonymous[His271His] |
1109
..
1109
|
C/T |
rs201235188
|
- |
CDS |
Synonymous[Gly275Gly] |
1130
..
1130
|
C/T |
rs56032037
|
- |
CDS |
Synonymous[Tyr282Tyr] |
1137
..
1137
|
G/A |
rs200847097
|
- |
CDS |
Nonsynonymous[Val285Ile] |
1160
..
1160
|
A/G |
rs28914532
|
+ |
CDS |
Synonymous[Thr292Thr] |
1176
..
1176
|
T/C |
rs28914533
|
+ |
CDS |
Synonymous[Leu298Leu] |
1234
..
1234
|
A/G |
rs192943572
|
- |
CDS |
Nonsynonymous[Glu317Gly] |
1253
..
1253
|
G/A |
rs143159520
|
- |
CDS |
Synonymous[Leu323Leu] |
1291
..
1291
|
T/G |
rs147552979
|
- |
CDS |
Nonsynonymous[Phe336Cys] |
1304
..
1304
|
T/G |
rs150181582
|
- |
CDS |
Synonymous[Thr340Thr] |
1307
..
1307
|
A/G |
rs139334603
|
- |
CDS |
Synonymous[Glu341Glu] |
1327
..
1327
|
T/A |
rs141559171
|
- |
CDS |
AA-STOP[Leu348*] |
1361
..
1361
|
G/A |
rs199688019
|
- |
CDS |
Synonymous[Glu359Glu] |
1391
..
1391
|
C/T |
rs201521779
|
- |
CDS |
Synonymous[Ala369Ala] |
1518
..
1518
|
T/C |
rs140036159
|
- |
CDS |
Synonymous[Leu412Leu] |
1538
..
1538
|
T/C |
rs142746259
|
- |
CDS |
Synonymous[Tyr418Tyr] |
1623
..
1623
|
G/A |
rs144729350
|
- |
CDS |
Nonsynonymous[Val447Ile] |
1685
..
1685
|
T/C |
rs138565389
|
- |
CDS |
Synonymous[Gly467Gly] |
1715
..
1715
|
A/C |
rs2274230
|
+ |
CDS |
Synonymous[Leu477Leu] |
1852
..
1852
|
A/G |
rs146942033
|
- |
CDS |
Nonsynonymous[His523Arg] |
1898
..
1898
|
G/A |
rs117218074
|
- |
CDS |
Synonymous[Thr538Thr] |
1899
..
1899
|
T/C |
rs147444465
|
- |
CDS |
Nonsynonymous[Cys539Arg] |
1907
..
1907
|
A/G |
rs201386260
|
- |
CDS |
Synonymous[Thr541Thr] |
1974
..
1974
|
A/G |
rs74413397
|
- |
3'UTR |
|
2052
..
2052
|
A/G |
rs188393910
|
- |
3'UTR |
|
2072
..
2072
|
C/T |
rs28913884
|
+ |
3'UTR |
|
2073
..
2073
|
G/A |
rs182761002
|
- |
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 |
MamRTE1 |
1322 |
1437 |
+ |
L1ME3A |
1844 |
2137 |
+ |
|