General information of RDP00170
Gene Symbol:BRWD1
RefSeq ID:NM_001007246
Repeat coordinate:chr21:39313591-39313612 (-)
Repeat size:7
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.409; 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
OligospermiaNM_0010072460.3010CTD_human
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
21
39313586
.
CGCGCGCCGCCGCCGCCGCCGCCGCCGCCATACCGT
C
882.84
21
39313589
rs148082602
GCGCCGCCGC
GCGCCGC,GCGCCGCCGCCGC,GCGCCGCCGCCGCCGC,GCGCCGCCGCCGCCGCCGC,G,GCGCCGCCGCCGCCGCCGCCGC
15818841.73
21
39313592
.
C
G
8498290.62
21
39313594
.
GCC
GCCTCC,G
362756.01
21
39313597
.
GC
G
261513.16
21
39313601
.
C
G
67815.83
21
39313608
.
C
CGCCGCCGCT,T
1851.88
21
39313610
.
C
CCGT
730.19
21
39313612
.
GCCA
G
1567.73
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
21
39313583
.
AGGCGCGCGC
AGGCGCG
.
21
39313589
.
GCGC
G
.
21
39313589
rs148082602
GCGC
GCGCCGC,GCGCCGCCGC,G
.
21
39313589
.
GCGCCGC
GCGC,G
.
21
39313589
.
GCGCCGCCGC
GCGCCGC,G
.
21
39313589
.
GCGCCGCCGCCGC
GCGCCGCCGC,G
.
21
39313590
.
CGCCGCCGCCG
CGCCGCCG
.
21
39313592
.
C
G
.