Hs05999458_cn

• Gene Symbol: PDE6A
• Assay Reference Genome Location: Chr.5:149860480 on build GRCh38
• Cytoband: 5q32

Target Gene Details

• Entrez Gene ID: 5145
• Gene Name: phosphodiesterase 6A
• Gene Aliases: CGPR-A, PDEA, RP43
• Location: Chr.5:149857956-149944793 on Build GRCh38
• Assay Gene Location: Within Exon 24

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDE6A	NM_000440.2	22	3118	NP_000431.2
	XM_011537650.2	19	2249	XP_011535952.1
	XM_011537651.2	16	2717	XP_011535953.1
	XM_011537652.1	17	2187	XP_011535954.1
	XM_011537653.2	16	2883	XP_011535955.1
	XM_011537654.2	16	2880	XP_011535956.1
	XM_017009572.1	20	2875	XP_016865061.1
	AB593141.1	20	2875
	BX537592.1	1	278

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv24664	Chr.5:149854140 - 150050084 on Build GRCh38	Gain+Loss	TIGD6 HMGXB3 LOC644762 SLC26A2 PDE6A PPARGC1B
nsv1023343	Chr.5:149851224 - 149888162 on Build GRCh38	Gain	PDE6A PPARGC1B
esv3890751	Chr.5:149851956 - 149886716 on Build GRCh38	Gain	PDE6A PPARGC1B
dgv10112n54	Chr.5:149851167 - 149881249 on Build GRCh38	Gain	PDE6A PPARGC1B

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

phosphodiesterase

Gene Ontology Categories:

Process(es)

Wnt signaling pathway, calcium modulating pathway
visual perception
rhodopsin mediated signaling pathway
regulation of rhodopsin mediated signaling pathway
GMP metabolic process
regulation of cytosolic calcium ion concentration

Function(s)

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