General information of RDP00083
Gene Symbol:HECTD4
RefSeq ID:NM_001109662
Repeat coordinate:chr12:112382088-112382109 (-)
Repeat size:7
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.872; 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
Coronary Artery DiseaseNM_0011096620.3010CTD_human
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
112382087
.
GGCC
GGCCGCCGCC,GGCCGCCGCCGCC,G,GGCCGCC
11084.13
12
112382090
.
C
T
12756.74
12
112382091
.
G
A
345.65
12
112382100
.
G
A
160.50
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
112382087
.
GGCC
G
.