Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
26
..
26
|
G/T |
rs62067234
|
+ |
CDS |
Nonsynonymous[Ala2Ser] |
47
..
47
|
C/T |
rs184395595
|
+ |
CDS |
Nonsynonymous[Arg9Cys] |
93
..
93
|
C/A |
rs1557752
|
- |
CDS |
Nonsynonymous[Thr24Lys] |
124
..
124
|
C/T |
rs11658591
|
+ |
CDS |
Synonymous[Leu34Leu] |
149
..
149
|
A/C |
rs187883211
|
+ |
CDS |
Nonsynonymous[Thr43Pro] |
237
..
237
|
G/A |
rs34727343
|
- |
CDS |
Nonsynonymous[Gly72Glu] |
315
..
315
|
C/T |
rs201878199
|
+ |
CDS |
Nonsynonymous[Ser98Leu] |
332
..
332
|
G/T |
rs200979098
|
+ |
CDS |
Nonsynonymous[Gly104Cys] |
355
..
355
|
C/T |
rs139396445
|
+ |
CDS |
Synonymous[Ala111Ala] |
396
..
396
|
G/A |
rs202186032
|
+ |
CDS |
Nonsynonymous[Cys125Tyr] |
421
..
421
|
C/T |
rs142631993
|
+ |
CDS |
Synonymous[Ala133Ala] |
441
..
441
|
G/A |
rs16967845
|
+ |
CDS |
Nonsynonymous[Cys140Tyr] |
461
..
461
|
G/A |
rs201128410
|
+ |
CDS |
Nonsynonymous[Ala147Thr] |
462
..
462
|
C/T |
rs201437710
|
+ |
CDS |
Nonsynonymous[Ala147Val] |
486
..
486
|
T/C |
rs201729342
|
+ |
CDS |
Nonsynonymous[Leu155Pro] |
501
..
501
|
A/G |
rs28963
|
- |
CDS |
Nonsynonymous[His160Arg] |
509
..
509
|
G/A |
rs200269504
|
+ |
CDS |
Nonsynonymous[Gly163Arg] |
517
..
517
|
C/T |
rs199736765
|
+ |
CDS |
Synonymous[Asp165Asp] |
519
..
519
|
G/C |
rs149695417
|
+ |
CDS |
Nonsynonymous[Gly166Ala] |
543
..
543
|
A/G |
rs145497386
|
+ |
CDS |
Nonsynonymous[Asp174Gly] |
571
..
571
|
C/T |
rs200596990
|
+ |
CDS |
Synonymous[Ser183Ser] |
584
..
584
|
G/A |
rs35420663
|
- |
CDS |
Nonsynonymous[Ala188Thr] |
592
^
593
|
-/G |
rs11369381
|
+ |
CDS |
|
598
..
598
|
C/T |
rs146926616
|
+ |
CDS |
Synonymous[Tyr192Tyr] |
644
..
644
|
C/T |
rs147752062
|
+ |
CDS |
Nonsynonymous[Arg208Trp] |
647
..
647
|
A/T |
rs142634426
|
+ |
CDS |
Nonsynonymous[Arg209Trp] |
669
..
669
|
C/T |
rs143361724
|
+ |
CDS |
Nonsynonymous[Pro216Leu] |
673
..
673
|
C/T |
rs16967849
|
+ |
CDS |
Synonymous[Asn217Asn] |
681
..
681
|
A/G |
rs201467254
|
+ |
CDS |
Nonsynonymous[Asn220Ser] |
690
..
690
|
G/A |
rs141497752
|
+ |
CDS |
Nonsynonymous[Arg223Gln] |
732
..
732
|
C/A |
rs138285109
|
+ |
CDS |
Nonsynonymous[Thr237Asn] |
746
..
746
|
A/G |
rs62068261
|
+ |
CDS |
Nonsynonymous[Met242Val] |
757
..
757
|
C/A |
rs146053986
|
+ |
CDS |
Synonymous[Thr245Thr] |
765
..
765
|
C/T |
rs35014584
|
- |
CDS |
Nonsynonymous[Pro248Leu] |
771
..
771
|
G/T |
rs149534103
|
+ |
CDS |
Nonsynonymous[Gly250Val] |
814
..
814
|
A/T |
rs139783886
|
+ |
CDS |
Nonsynonymous[Lys264Asn] |
830
..
830
|
G/A |
rs201825625
|
+ |
CDS |
Nonsynonymous[Val270Met] |
835
..
835
|
T/C |
rs28956
|
- |
CDS |
Synonymous[Asp271Asp] |
836
..
836
|
G/A |
rs142148066
|
+ |
CDS |
Nonsynonymous[Gly272Ser] |
857
..
857
|
C/T |
rs200160944
|
+ |
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 |
LTR18B |
13 |
114 |
+ |
AluJo |
119 |
252 |
- |
|