| General information of RDP00164 | |
|---|---|
| Gene Symbol: | POU3F3 |
| RefSeq ID: | NM_006236 |
| Repeat coordinate: | chr2:104855421-104855445 (+) |
| Repeat size: | 8 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.053; 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
104855420
.
CGCGGCGGCGGCGGCGGCGGCGGCGGCCGCGGCTGCTGCT
CGCGGCGGCGGCGGCGGCGGCGGCCGCGGCTGCTGCT,CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCGCGGCTGCTGCT,CGCGGCGGCGGCGGCGGCCGCGGCTGCTGCT,CGCGGCGGCGGCCGCGGCTGCTGCT,CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCGCGGCTGCTGCT,C
60940.08
2
104855422
.
C
G
38421.53
2
104855423
.
GGCGGCGGCGGCGGCGGCGGCGGCCGCGGCTGCTGCT
G
38817.66
2
104855425
.
C
G
19211.13
2
104855426
.
GGCGGCGGCGGCGGCGGCGGCCGCGGCTGCTGCT
G
21282.31
2
104855428
.
C
A
19655.15
2
104855431
.
C
A
16568.04
2
104855432
.
GGCGGCGGCGGCGGCCGCGGCTGCTGCT
G
16384.35
2
104855434
.
C
CG
18625.91
2
104855435
.
GGCGGCGGCGGCCGCGGCTGCTGCT
G
15689.07
2
104855437
.
C
A
4966.13
2
104855438
.
GGCGGCGGCCGCGGCTGCTGCT
G
4550.98
2
104855441
.
G
GGCGGCC
4969.68
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
104855420
.
CGCGGCGGCGGCGGCG
C
.