| General information of RDP00205 | |
|---|---|
| Gene Symbol: | SOBP |
| RefSeq ID: | NM_018013 |
| Repeat coordinate: | chr6:107490254-107490272 (+) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.963; 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, anterior maxillary protrusion, and strabismus, 613671 (3) | 613667 | 6q21 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS | NM_018013 | 0.61 | 2 | 1 | CTD_human;GENOMICS_ENGLAND |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
107490254
rs761084632
CCGGCGGCGG
CCGGCGGCGGCGG,CCGGCGG,CCGGCGGCGGCGGCGG,C
35626.53
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
107490257
.
G
GC
.