General information of RDP00198
Gene Symbol:CDH6
RefSeq ID:NM_004932
Repeat coordinate:chr5:31193809-31193827 (+)
Repeat size:6
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.079; 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
CachexiaNM_0049320.3010CTD_human
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
31193808
.
CGCG
C,CGCGGCG,CGCGGCGGCG
31049.27
5
31193812
.
G
A
305.56
5
31193814
.
G
T
237.48
5
31193822
.
C
A
275.46
5
31193823
.
G
A
779.40
5
31193826
.
G
T
163.46
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
31193808
.
CGCG
C
.
5
31193808
.
CGCG
C
.