Assay Details
Target Gene Details
Entrez Gene ID: | 5158 |
Gene Name: | phosphodiesterase 6B |
Gene Aliases: |
CSNB3, CSNBAD2, PDEB, RP40, rd1 |
Location: |
Chr.4:587593-670892 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PDE6B | XM_011513473.2 | 1 | 329 | XP_011511775.1 |
XM_011513474.2 | 1 | 329 | XP_011511776.1 | |
XM_011513476.2 | 1 | 329 | XP_011511778.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv822425 | Chr.4:546316 - 1420011 on Build GRCh38 | Loss | PCGF3 CTBP1-AS2 CTBP1 PDE6B FGFRL1 ATP5I LOC101928521 RNF212 LOC100130872 UVSSA LOC100129917 CTBP1-AS NKX1-1 MYL5 SPON2 DGKQ LOC101928548 TMED11P CPLX1 LOC107986211 CRIPAK MAEA TMEM175 LOC105374344 SLC26A1 MFSD7 IDUA GAK |
nsv508986 | Chr.4:527899 - 756994 on Build GRCh38 | Insertion | PCGF3 LOC107986211 PIGG ATP5I LOC101928521 MYL5 PDE6B MFSD7 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |