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 Intron 1 |
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 | 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 | PDE6B MYL5 CPLX1 LOC101928521 GAK TMEM175 MFSD7 PCGF3 LOC107986211 LOC100129917 ATP5I |
nsv593205 | Chr.4:608002 - 629840 on Build GRCh38 | Loss | PDE6B |
nsv822425 | Chr.4:546316 - 1420011 on Build GRCh38 | Loss | PDE6B SPON2 LOC101928521 CTBP1-AS2 TMEM175 SLC26A1 PCGF3 MYL5 UVSSA CPLX1 MAEA CTBP1 LOC107986211 LOC101928548 LOC100129917 CRIPAK TMED11P LOC100130872 IDUA MFSD7 LOC105374344 CTBP1-AS ATP5I RNF212 DGKQ FGFRL1 GAK NKX1-1 |
nsv950325 | Chr.4:620112 - 796912 on Build GRCh38 | Deletion | PDE6B MYL5 CPLX1 LOC101928521 MFSD7 PCGF3 LOC107986211 LOC100129917 ATP5I |
nsv508986 | Chr.4:527899 - 756994 on Build GRCh38 | Insertion | PDE6B MYL5 LOC101928521 MFSD7 PIGG PCGF3 LOC107986211 ATP5I |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |