General information of RDP00545
Gene Symbol:CYHR1
RefSeq ID:NM_138496
Repeat coordinate:chr8:144462368-144462389 (-)
Repeat size:7
Repeat region:intron
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.192; 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
8
144462367
rs561477414
GGCCGCCGCC
GGCCGCCGCCGCC,GGCCGCC,TGCCGCCGCC,GGCC,G,GGCCGCCGCCGCCGCC
299213.15
8
144462371
.
G
A
12453.07
8
144462372
.
C
T
5330.85
8
144462377
.
G
A
748.23
8
144462380
.
G
A,T
818.73
8
144462382
.
C
T,G
637.55
8
144462384
.
C
T
764.95
8
144462385
rs746896407
CGCCGCCTCG
C
1448.04
8
144462389
.
G
A
2232.47
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
144462367
rs561477414
GGCCGCCGCC
GGCCGCC,GGCCGCCGCCGCC,GGCCGCCGCCGCCGCC,GGCCGCCGCCGCCGCCGCC,GGCC,G
170666.59
8
144462385
rs746896407
CGCCGCCTCG
C
949.02
8
144462389
.
G
A
2444.33
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
144462367
rs778592475
GGCC
GACC,G
.
8
144462367
rs773036136
GGCCGCC
G,GGCC
.
8
144462379
.
C
CG
.
8
144462385
rs746896407
CGCCGCCTCG
C
.
8
144462389
.
G
GC
.