Hs04624846_cn

• Gene Symbol: PDE1A
• Assay Reference Genome Location: Chr.2:182143430 on build GRCh38
• Cytoband: 2q32.1

Target Gene Details

• Entrez Gene ID: 5136
• Gene Name: phosphodiesterase 1A
• Gene Aliases: CAM-PDE-1A, HCAM-1, HCAM1, HSPDE1A
• Location: Chr.2:182140035-182523375 on Build GRCh38
• Assay Gene Location: Within Intron 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDE1A	NM_001258312.1			NP_001245241.1
	NM_005019.4			NP_005010.2
	XM_017004295.1			XP_016859784.1
	XM_017004296.1			XP_016859785.1
	XM_017004297.1			XP_016859786.1
	XM_017004298.1			XP_016859787.1
	XM_017004302.1			XP_016859791.1
	AK294239.1
	AK295657.1
	BC022480.1			AAH22480.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3593559	Chr.2:182126607 - 182163512 on Build GRCh38	Gain	PDE1A PPP1R1C

More Information

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

Panther Classification:

Molecular Function -

phosphodiesterase

Gene Ontology Categories:

Process(es)

signal transduction

Function(s)

3',5'-cyclic-AMP phosphodiesterase activity
calmodulin-dependent cyclic-nucleotide phosphodiesterase activity
calmodulin binding
metal ion binding
3',5'-cyclic-GMP phosphodiesterase activity