| General information of RDP00209 | |
|---|---|
| Gene Symbol: | PDGFA |
| RefSeq ID: | NM_002607 |
| Repeat coordinate: | chr7:519431-519449 (-) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.164; 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 |
| Alveolitis, Fibrosing | NM_002607 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
519430
.
GGCCGCCGCC
G,GGCCGCCGCCGCC,GGCCGCCGCCGCCGCC,GGCC,GGCCGCCGCCGCCGCCGCC
47039.32
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
519430
.
GGCCGCCGCC
G
.