Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
14
..
14
|
T/A |
rs77201699
|
- |
5'UTR |
|
132
..
132
|
A/G |
rs144025383
|
- |
CDS |
Synonymous[Gln8Gln] |
164
..
164
|
G/C |
rs201461973
|
- |
CDS |
Nonsynonymous[Gly19Ala] |
221
..
221
|
A/C |
rs200019700
|
- |
CDS |
Nonsynonymous[Gln38Pro] |
276
..
276
|
T/C |
rs11952797
|
- |
CDS |
Synonymous[Ala56Ala] |
299
..
299
|
A/G |
rs115876844
|
- |
CDS |
Nonsynonymous[Tyr64Cys] |
302
..
302
|
A/G |
rs149669559
|
- |
CDS |
Nonsynonymous[Lys65Arg] |
374
..
374
|
A/G |
rs139485114
|
- |
CDS |
Nonsynonymous[Gln89Arg] |
394
..
394
|
G/T |
rs150904237
|
- |
CDS |
Nonsynonymous[Ala96Ser] |
439
..
439
|
G/A |
rs201288464
|
- |
CDS |
Nonsynonymous[Ala111Thr] |
444
..
444
|
G/T |
rs142472222
|
- |
CDS |
Synonymous[Ala112Ala] |
460
..
460
|
G/A |
rs140903972
|
- |
CDS |
Nonsynonymous[Ala118Thr] |
518
..
518
|
T/C |
rs143476554
|
- |
CDS |
Nonsynonymous[Met137Thr] |
521
..
521
|
A/G |
rs199979167
|
- |
CDS |
Nonsynonymous[Tyr138Cys] |
548
..
548
|
C/T |
rs34663948
|
+ |
CDS |
Nonsynonymous[Ala147Val] |
583
..
583
|
G/T |
rs10075302
|
- |
CDS |
Nonsynonymous[Gly159Cys] |
648
..
648
|
A/G |
rs199552235
|
- |
CDS |
Synonymous[Glu180Glu] |
650
..
650
|
T/G |
rs3749779
|
+ |
CDS |
Nonsynonymous[Val181Gly] |
653
..
653
|
C/T |
rs149349247
|
- |
CDS |
Nonsynonymous[Pro182Leu] |
754
..
754
|
G/A |
rs137959840
|
- |
CDS |
Nonsynonymous[Gly216Ser] |
759
..
759
|
A/C |
rs150162255
|
- |
CDS |
Synonymous[Gly217Gly] |
765
..
765
|
T/C |
rs141132745
|
- |
CDS |
Synonymous[Ala219Ala] |
784
..
784
|
G/A/T |
rs3749780
|
+ |
CDS |
|
797
..
797
|
T/A |
rs200925434
|
- |
CDS |
Nonsynonymous[Val230Glu] |
823
..
823
|
G/A |
rs145456969
|
- |
CDS |
Nonsynonymous[Val239Ile] |
830
..
830
|
C/G |
rs146929069
|
- |
CDS |
Nonsynonymous[Ser241Cys] |
843
..
843
|
A/G |
rs189382434
|
- |
CDS |
Synonymous[Lys245Lys] |
867
..
867
|
C/T |
rs3749781
|
+ |
CDS |
Synonymous[Leu253Leu] |
886
..
886
|
G/T |
rs201027777
|
- |
CDS |
AA-STOP[Glu260*] |
955
..
955
|
C/T |
rs183485813
|
- |
CDS |
Synonymous[Leu283Leu] |
987
..
987
|
G/A |
rs200365489
|
- |
CDS |
Nonsynonymous[Met293Ile] |
994
..
994
|
A/G |
rs201821285
|
- |
CDS |
Nonsynonymous[Lys296Glu] |
998
..
998
|
A/G |
rs200557097
|
- |
CDS |
Nonsynonymous[Gln297Arg] |
1008
..
1008
|
A/G |
rs140268129
|
- |
CDS |
Synonymous[Ala300Ala] |
1038
..
1038
|
G/A |
rs201849925
|
- |
3'UTR |
|
1058
..
1058
|
T/A |
rs180852440
|
- |
3'UTR |
|
1136
..
1136
|
C/T |
rs189362695
|
- |
3'UTR |
|
1230
..
1230
|
G/A |
rs138633014
|
- |
3'UTR |
|
1302
..
1302
|
G/A |
rs150159946
|
- |
3'UTR |
|
1329
..
1329
|
A/G |
rs140838403
|
- |
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 |
|