General information of RDP00665
Gene Symbol:ASH1L-AS1
RefSeq ID:NR_147963
Repeat coordinate:chr1:155562426-155562444 (+)
Repeat size:6
Repeat region:intron
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.997; Repeat Conservation from UCSC Genome Browser
Amino acid sequence:-
Gene expression and GO annotation: BioGPS
Protein expression:Human Protein Altas
Gene conservation:Gene Conservation from UCSC Genome Browser
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
155562415
.
TGGCGGCGGGAGCGGC
TGGCGGCGGGAGCGGCGGCGGCGGCGGCGGGAGCGGC,TGGCGGCGGGAGCGGCGGCGGGAGCGGC,TGGCGGCGGGAGCGGCGGCGGCGGCGGGAGCGGC,TGGCGGCGGGAGCGGCGGCGGCGGGAGCGGC,T
3364.58
1
155562425
rs760801465
AGCGGCGGCG
AGCGGCG,AGCGGCGGCGGCG,AGCGGCGGCGGCGGCG,AGCG,A
396192.07
1
155562430
rs755142818
C
T
10859.66
1
155562433
.
CGGCGGCGGCGGCAGCAGCAGAGTGGCGGCGGT
AGGCGGCGGCGGCAGCAGCAGAGTGGCGGCGGT,C
4351.76
1
155562435
.
G
C
1105.67
1
155562436
rs779169208
CGGCGGCGGCAGCAGCAGAGTGGCGGCGGT
TGGCGGCGGCAGCAGCAGAGTGGCGGCGGT,CGGCGGCGGCAGCAGCAGAGTGGCGGCGGCAGCAGCAGAGTGGCGGCGGT,C
10550.70
1
155562437
.
G
GGCGGCGGCAGCA
6216.62
1
155562439
.
CGGCGGCAGCAGCAGAGTGGCGGCGGT
C
6011.93
1
155562440
.
G
GGCGGCA,GGCGGCAGCA
8891.22
1
155562441
.
G
GCGT
9901.49
1
155562443
rs550620960
G
A,GGCA,C,GGCAGCA
11453.22
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
155562415
.
TGGCGGCGGGAGCGGC
T,TGGCGGCGGGAGCGGCGGCGGCGGCGGCGGGAGCGGC
1412.14
1
155562425
rs760801465
AGCG
AGCGGCG,A,AGCGGCGGCG
10233
1
155562440
.
G
GGCGGCAGCAGCA,A
1384.19
1
155562443
rs550620960
G
GGCA
818.46
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
155562425
rs764342062
AGCG
A
.
1
155562425
rs757359444
AGCGGCG
A,AGCG,AGCGGCGGCG,AGCGGCGGCGGCG
.
1
155562429
.
G
GC
.
1
155562430
rs755142818
C
T
.
1
155562436
rs779169208
CGGCGGCGGCAGCAGCAGAGTGGCGGCGGT
C
.
1
155562437
.
GGC
G
.
1
155562443
rs550620960
G
A
.