General information of RDP00514
Gene Symbol:MMP24-AS1-EDEM2
RefSeq ID:NM_001355008
Repeat coordinate:chr20:35226774-35226798 (-)
Repeat size:8
Repeat region:intron
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.009; 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 ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
20
35226773
rs577067524
GGCCGCCGCC
GGCCGCCGCCGCC,G
1130.17
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
20
35226773
rs577067524
GGCCGCCGCCGCC
GGCC,GGCCGCCGCCGCCGCC,GGCCGCCGCCGCCGCCGCC,GGCCGCC,G
3688374.83
20
35226781
.
C
T
3727343.10
20
35226791
.
C
T
265.93
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
20
35226773
rs577067524
GGCCGCCGCC
G
.
20
35226778
.
C
G
.
20
35226781
.
C
G
.
20
35226783
.
G
T
.
20
35226788
.
C
A
.