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 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PDE6B | XM_011513473.2 | XP_011511775.1 | ||
XM_011513474.2 | XP_011511776.1 | |||
XM_011513475.2 | 3 | 1217 | XP_011511777.1 | |
XM_011513476.2 | XP_011511778.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2759217 | Chr.4:609419 - 937566 on Build GRCh38 | Loss | TMEM175 MFSD7 MYL5 LOC100129917 LOC107986211 CPLX1 PCGF3 GAK PDE6B ATP5I LOC101928521 |
nsv593205 | Chr.4:608002 - 629840 on Build GRCh38 | Loss | PDE6B |
nsv822425 | Chr.4:546316 - 1420011 on Build GRCh38 | Loss | RNF212 LOC100129917 SPON2 FGFRL1 PCGF3 NKX1-1 CRIPAK LOC101928548 UVSSA LOC100130872 PDE6B LOC101928521 MAEA TMEM175 MFSD7 LOC107986211 LOC105374344 CPLX1 DGKQ GAK ATP5I CTBP1 MYL5 CTBP1-AS2 TMED11P SLC26A1 IDUA CTBP1-AS |
nsv950325 | Chr.4:620112 - 796912 on Build GRCh38 | Deletion | MFSD7 MYL5 LOC100129917 LOC107986211 CPLX1 PCGF3 PDE6B ATP5I LOC101928521 |
nsv508986 | Chr.4:527899 - 756994 on Build GRCh38 | Insertion | MFSD7 PIGG MYL5 LOC107986211 PCGF3 PDE6B ATP5I LOC101928521 |
esv993737 | Chr.4:624323 - 635048 on Build GRCh38 | Deletion | PDE6B |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |