General information of RDP00182
Gene Symbol:RYK
RefSeq ID:NM_001005861
Repeat coordinate:chr3:134250656-134250674 (-)
Repeat size:6
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.010; 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 DisGeNET:
Disease_nameRefSeqScoreNofPmidsNofSnpsSource
Cleft palate, isolatedNM_0010058610.3110CTD_human
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
134250659
.
G
A
31.74
3
134250660
.
C
A
102.89
3
134250667
.
C
A
31.19
3
134250668
.
G
A
146.01
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
134250655
.
GGCCGCC
GGCCGCCGCC,GGCCGCCGCCGCC,G,GGCCGCCGCCGCCGCC
11636.03
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
134250655
.
GGCC
G
.
3
134250672
.
C
T
.