| General information of RDP00040 | |
|---|---|
| Gene Symbol: | GNB1 |
| RefSeq ID: | NM_001282538 |
| Repeat coordinate: | chr1:1891014-1891032 (-) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.414; 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 OMIM: | ||
|---|---|---|
| Phenotype | OMIM_id | Location |
| Mental retardation, autosomal dominant 42, 616973 (3) | 139380 | 1p36.33 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 | NM_001282538 | 0.70 | 5 | 12 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
1891014
.
CCCGCCGCCG
CCCGCCG,CCCGCCGCCGCCG,CCCGCCGCCGCCGCCGCCG,CCCGCCGCCGCCGCCG,C,CCCG
43750.76
1
1891017
.
G
A,C
12785.59
1
1891028
.
C
A
345.44
1
1891029
rs867370968
G
GCCGCCT
10533.58
1
1891032
.
G
GCCT
907.61