General information of RDP00370
Gene Symbol:ANKS1A
RefSeq ID:NM_015245
Repeat coordinate:chr6:34889542-34889560 (+)
Repeat size:6
Repeat region:CDS
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.902; Repeat Conservation from UCSC Genome Browser
Amino acid sequence:GGGGG
Gene expression and GO annotation: BioGPS
Protein expression:Human Protein Altas
Gene conservation:Gene Conservation from UCSC Genome Browser
Mapping repeat track to DisGeNET:
Disease_nameRefSeqScoreNofPmidsNofSnpsSource
Coronary Artery DiseaseNM_0152450.3110CTD_human
Mapping repeat track to ESP:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
34889541
~rs71812534
AGCG
A
.
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
34889516
rs867557636
TGGCTCTGGGGGCGGCGGCGGCGGCAGC
T
73894.27
6
34889525
rs753890941
GGGCGGCGGCGGCGGCAGCGGC
GGGCGGCGGCGGCGGCGGCGGCAGCGGC,GGGCGGCGGCAGCGGC,G,GGGCGGCGGCGGCAGCGGC,GGGCGGCGGCGGCGGCGGCAGCGGC
202522.07
6
34889541
rs751654394
AGCGGCGGCG
AGCGGCG,GGCGGCGGCG,AGCGGCGGCGGCG,AGCGGCGGCGGCGGCG,A
165953.09
6
34889543
rs762483856
C
T,G
68172.08
6
34889544
.
G
A
87479.47
6
34889547
rs751196371
G
A,GGCA
13286.96
6
34889555
.
C
T
142.68
6
34889556
rs756785970
G
A
308.45
6
34889560
.
G
A
683.64
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
34889525
rs753890941
GGGCGGCGGCGGCGGCAGC
GGGCGGCGGCAGC,GGGCGGCGGCGGCGGCGGCGGCAGC,GGGCGGCGGCGGCGGCGGCAGC,G
991375.67
6
34889541
rs751654394
AGCG
AGCGGCG,A,AGCGGCGGCGGCGGCG,GGCG,AGCGGCGGCG
47025.01
6
34889543
rs762483856
C
T
2544.01
6
34889547
rs751196371
G
A,GGCA
439.78
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
34889516
rs772759690
TGGCTCTGGGGGCGGCGGCGGCGGCAGC
T
.
6
34889525
rs759273970
GGGCGGCGGCGGCGGCAGC
G
.
6
34889525
rs776443079
GGGCGGCGGCGGCGGCAGCGGC
G,GGGC,GGGCAGCGGC,GGGCGGCGGCAGCGGC,GGGCGGCGGCGGCGGCGGCGGCAGCGGC
.
6
34889541
.
AGCGGCGGCG
A,AGCG,AGCGGCG,AGCGGCGGCGGCG,AGCGGCGGCGGCGGCG,GGCGGCGGCG
.
6
34889541
rs764279536
AGCG
A
.
6
34889541
rs757287345
AGCGGCG
A
.
6
34889541
rs750989331
AGCGGCGGCG
A
.
6
34889543
rs762483856
C
G,T
.
6
34889547
rs751196371
G
A,GGCA
.
6
34889547
rs756509763
G
GGCA
.
6
34889556
rs756785970
G
A
.
6
34889558
.
C
CG
.