Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
90
..
90
|
T/C |
rs186149178
|
- |
5'UTR |
|
130
..
130
|
G/A |
rs138031079
|
- |
5'UTR |
|
152
..
152
|
T/A |
rs143484257
|
- |
5'UTR |
|
167
..
167
|
C/T |
rs117699649
|
- |
5'UTR |
|
201
..
201
|
A/G |
rs147371889
|
- |
CDS |
Nonsynonymous[Met1Val] |
212
..
212
|
A/G |
rs142755934
|
- |
CDS |
Synonymous[Pro4Pro] |
237
..
237
|
G/T |
rs140439476
|
- |
CDS |
Nonsynonymous[Asp13Tyr] |
254
..
254
|
A/G |
rs147138921
|
- |
CDS |
Synonymous[Ala18Ala] |
255
..
255
|
G/A |
rs149464525
|
- |
CDS |
Nonsynonymous[Ala19Thr] |
333
..
333
|
C/G |
rs181695170
|
- |
CDS |
Nonsynonymous[Leu45Val] |
334
..
334
|
T/C |
rs77597251
|
- |
CDS |
Nonsynonymous[Leu45Pro] |
336
..
336
|
G/A |
rs189018671
|
- |
CDS |
Nonsynonymous[Val46Met] |
374
..
374
|
C/T |
rs199833547
|
- |
CDS |
Synonymous[Tyr58Tyr] |
387
..
387
|
A/C |
rs9300380
|
- |
CDS |
Synonymous[Arg63Arg] |
464
..
464
|
C/T |
rs201944413
|
- |
CDS |
Synonymous[Phe88Phe] |
520
..
520
|
A/T |
rs150274872
|
- |
CDS |
Nonsynonymous[Lys107Met] |
567
..
567
|
T/G |
rs141931194
|
- |
CDS |
Nonsynonymous[Phe123Val] |
591
..
591
|
C/T |
rs138415306
|
- |
CDS |
Nonsynonymous[Arg131Cys] |
592
..
592
|
G/A |
rs145670146
|
- |
CDS |
Nonsynonymous[Arg131His] |
664
..
664
|
C/T |
rs140605584
|
- |
CDS |
Nonsynonymous[Ala155Val] |
738
..
738
|
A/G |
rs200424554
|
- |
CDS |
Nonsynonymous[Arg180Gly] |
796
..
796
|
A/G |
rs146831407
|
- |
CDS |
Nonsynonymous[Asn199Ser] |
800
..
800
|
G/A |
rs9284174
|
- |
CDS |
Synonymous[Leu200Leu] |
813
..
813
|
A/G |
rs149147994
|
- |
CDS |
Nonsynonymous[Thr205Ala] |
869
..
869
|
C/T |
rs145058258
|
- |
CDS |
Synonymous[His223His] |
881
..
881
|
T/C |
rs149963863
|
- |
CDS |
Synonymous[His227His] |
896
..
896
|
C/T |
rs139618344
|
- |
CDS |
Synonymous[Asp232Asp] |
921
..
921
|
A/C |
rs200374851
|
- |
CDS |
Synonymous[Arg241Arg] |
922
..
922
|
G/A |
rs147820981
|
- |
CDS |
Nonsynonymous[Arg241Lys] |
942
^
943
|
-/C |
rs34496997
|
- |
CDS |
|
954
..
954
|
G/A |
rs144457939
|
- |
CDS |
Nonsynonymous[Val252Ile] |
987
..
987
|
A/T |
rs140375156
|
- |
CDS |
Nonsynonymous[Ile263Phe] |
996
..
996
|
G/A |
rs150544471
|
- |
CDS |
Nonsynonymous[Glu266Lys] |
1003
..
1003
|
G/A |
rs199724003
|
- |
CDS |
Nonsynonymous[Arg268His] |
1031
..
1031
|
G/T |
rs77191607
|
- |
CDS |
Nonsynonymous[Glu277Asp] |
1051
..
1051
|
A/G |
rs141610533
|
- |
CDS |
Nonsynonymous[Tyr284Cys] |
1092
..
1092
|
A/G |
rs148832052
|
- |
CDS |
Nonsynonymous[Asn298Asp] |
1093
..
1093
|
A/G |
rs185085235
|
- |
CDS |
Nonsynonymous[Asn298Ser] |
1133
..
1133
|
G/T |
rs148408262
|
- |
CDS |
Nonsynonymous[Gln311His] |
1166
..
1166
|
C/T |
rs144365402
|
- |
CDS |
Synonymous[Ser322Ser] |
1173
..
1173
|
C/T |
rs143070279
|
- |
CDS |
Nonsynonymous[Leu325Phe] |
1193
..
1193
|
T/C |
rs9584456
|
- |
CDS |
Synonymous[Ile331Ile] |
1210
^
1211
|
-/C |
rs34335064
|
- |
CDS |
|
1214
..
1214
|
A/T |
rs145793060
|
- |
CDS |
STOP-AA[*338Cys] |
1252
..
1252
|
G/A |
rs145452744
|
- |
3'UTR |
|
1256
..
1256
|
C/A |
rs189186212
|
- |
3'UTR |
|
1313
..
1313
|
T/C |
rs117409629
|
- |
3'UTR |
|
1403
..
1403
|
A/G |
rs184285545
|
- |
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 |
|