General information of RDP00191
Gene Symbol:JADE1
RefSeq ID:NM_001287439
Repeat coordinate:chr4:128809982-128810003 (+)
Repeat size:7
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.987; 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 gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
128809982
rs778572627
ACGGCGGCGGCGGCGGCGG
A,GCGGCGGCGGCGGCGGCGG,ACGGCGGCGGCGG,ACGGCGGCGGCGGCGG,ACGGCGGCGGCGGCGGCGGCGG,ACGGCGGCGG
179634.99
4
128809987
.
G
T
129473.62
4
128809995
.
C
T
5976.81
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
128809982
rs778572627
ACGGCGG
A
.
4
128809982
.
ACGGCGGCGG
A
.
4
128809982
.
ACGGCGGCGGCGGCGGCGG
ACGGCGGCGGCGG,A
.
4
128809983
.
C
CG
.
4
128809992
.
C
CG
.
4
128810000
rs564306413
G
A
.