| 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
.