Hs04846075_cn

• Gene Symbol: PDE6B
• Assay Reference Genome Location: Chr.4:588840 on build GRCh38
• Cytoband: 4p16.3

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: Overlaps Exon 1 - 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
nsv822425	Chr.4:546316 - 1420011 on Build GRCh38	Loss	RNF212 TMED11P TMEM175 SLC26A1 CTBP1-AS LOC101928548 CTBP1-AS2 CTBP1 GAK PDE6B LOC105374344 LOC101928521 CRIPAK NKX1-1 FGFRL1 LOC100129917 SPON2 IDUA LOC100130872 UVSSA PCGF3 MAEA LOC107986211 MFSD7 MYL5 ATP5I CPLX1 DGKQ
nsv508986	Chr.4:527899 - 756994 on Build GRCh38	Insertion	LOC101928521 MFSD7 MYL5 ATP5I PDE6B PIGG PCGF3 LOC107986211

More Information

Additional Information:

For this assay, SNP(s) [rs73056539] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

phosphodiesterase

Gene Ontology Categories:

Process(es)

Wnt signaling pathway, calcium modulating pathway
visual perception
phototransduction, visible light
rhodopsin mediated signaling pathway
regulation of rhodopsin mediated signaling pathway
GMP metabolic process
regulation of cytosolic calcium ion concentration
retina development in camera-type eye

Function(s)

metal ion binding
3',5'-cyclic-GMP phosphodiesterase activity