| General information of RDP00163 | |
|---|---|
| Gene Symbol: | POU3F3 |
| RefSeq ID: | NM_006236 |
| Repeat coordinate: | chr2:104855294-104855315 (+) |
| Repeat size: | 7 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.329; 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 |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 | NM_006236 | 0.30 | 1 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
104855293
.
CGCGGCG
CGCG,CGCGGCGGCG,CGCGGCGGCGGCG,C
15445.45
2
104855298
.
CGGCGGCGGCGGCGGCGGGGGCGGA
C
2296.33
2
104855301
.
CGGCGGCGGCGGCGGGGGCGGA
C
1708.27
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
104855293
.
CGCG
C
.
2
104855306
.
G
GC
.
2
104855312
.
G
GC
.