| General information of RDP00206 | |
|---|---|
| Gene Symbol: | SOBP |
| RefSeq ID: | NM_018013 |
| Repeat coordinate: | chr6:107490329-107490347 (+) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.869; 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
107490328
rs529959813
TGCGGCGGCG
TGCGGCGGCGGCG,TGCGGCG,TGCG,GGCGGCGGCG,T
334920.29
6
107490340
.
G
A
108.25
6
107490343
.
G
GGCGGCAGCA
322.86
6
107490346
.
G
GGCA
114.27
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
107490328
.
TGCGG
GTCGG
.
6
107490330
rs574697458
C
CG,G
.
6
107490332
.
G
GC
.
6
107490339
.
C
G
.