General information of RDP00471
Gene Symbol:CBX1
RefSeq ID:NM_001127228
Repeat coordinate:chr17:48101207-48101225 (-)
Repeat size:6
Repeat region:intron
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.537; 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
Malignant neoplasm of prostateNM_0011272280.3110CTD_human
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
48101207
.
CCCG
C,CCCGCCG,CCCGCCGCCG
10575.44
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
48101207
.
CCCG
C
.
17
48101207
.
CCCG
C
.
17
48101219
.
GCCG
C
.