General information of RDP00182 | |
---|---|
Gene Symbol: | RYK |
RefSeq ID: | NM_001005861 |
Repeat coordinate: | chr3:134250656-134250674 (-) |
Repeat size: | 6 |
Repeat region: | 5' UTR |
Repeat unit: | CGG |
Repeat conservation: | PhastCons_score: 0.010; 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 |
Cleft palate, isolated | NM_001005861 | 0.31 | 1 | 0 | CTD_human |
Mapping repeat track to ExAC: |
---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
134250659
.
G
A
31.74
3
134250660
.
C
A
102.89
3
134250667
.
C
A
31.19
3
134250668
.
G
A
146.01
Mapping repeat track to gnomAD: |
---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
134250655
.
GGCCGCC
GGCCGCCGCC,GGCCGCCGCCGCC,G,GGCCGCCGCCGCCGCC
11636.03
Mapping repeat track to Kaviar: |
---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
134250655
.
GGCC
G
.
3
134250672
.
C
T
.