General information of RDP00171
Gene Symbol:DSCAM
RefSeq ID:NM_001271534
Repeat coordinate:chr21:40846779-40846797 (-)
Repeat size:6
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.021; 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
Prescription Drug AbuseNM_0012715340.3010CTD_human
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
21
40846760
.
GGCCGCCGCCCGCCCGCCGCCC
G
655.44
21
40846772
rs41428844
CCCGCCGCCCGCCGCCG
C,CCCGCCGCCGCCCGCCGCCG,CCCGCCGCCCGCCGCCGCCGCCCGCCGCCG,CCCGCCGCCCGCCGCCGCCCGCCGCCG
23270.66
21
40846779
rs557960494
CCCGCCG
CCCGCCGCCGCCGCCGCCG,CCCGCCGCCGCCGCCG,CCCGCCGCCGCCG,CCCGCCGCCG,C
741175.97
21
40846782
.
G
GC,T
7054.69
21
40846790
.
C
CGCCGCCGCT
845.92
21
40846793
.
C
CGCCGCT
1576.39
21
40846794
.
G
A
216.70
21
40846797
.
G
A
138.60
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
21
40846788
.
G
C
.