Hs07534081_cn

• Gene Symbol: PDE6C
• Assay Reference Genome Location: Chr.10:93629171 on build GRCh38
• Cytoband: 10q23.33

Target Gene Details

• Entrez Gene ID: 5146
• Gene Name: phosphodiesterase 6C
• Gene Aliases: ACHM5, COD4, PDEA2
• Location: Chr.10:93612588-93665673 on Build GRCh38
• Assay Gene Location: Within Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDE6C	NM_006204.3			NP_006195.3
	XM_017016322.1			XP_016871811.1
	U31973.1			AAA96392.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv21639	Chr.10:93628988 - 93630298 on Build GRCh38	Gain	PDE6C

More Information

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

Panther Classification:

Molecular Function -

phosphodiesterase

Gene Ontology Categories:

Process(es)

visual perception
phototransduction, visible light
retinal cone cell development

Function(s)

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