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_name | RefSeq | Score | NofPmids | NofSnps | Source |
Oligospermia | NM_001007246 | 0.30 | 1 | 0 | CTD_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
.