Hs01951835_cn

• Gene Symbol: PDE6H
• Assay Reference Genome Location: Chr.12:14978037 on build GRCh38
• Cytoband: 12p12.3

Target Gene Details

• Entrez Gene ID: 5149
• Gene Name: phosphodiesterase 6H
• Gene Aliases: ACHM6, RCD3
• Location: Chr.12:14973022-14982697 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDE6H	NM_006205.2			NP_006196.1
	XM_017019431.1	1	374	XP_016874920.1
	BC069774.1			AAH69774.1
	BC069800.1			AAH69800.1
	BC093738.1			AAH93738.1
	BC093740.1			AAH93740.1
	D45399.1			BAA08241.1
	EL946662.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv951333	Chr.12:14951167 - 14983766 on Build GRCh38	Duplication	ARHGDIB PDE6H
dgv1394n100	Chr.12:14938693 - 14980786 on Build GRCh38	Gain	ARHGDIB PDE6H

More Information

Additional Information:

For this assay, SNP(s) [rs114575851] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

phosphodiesterase

Gene Ontology Categories:

Process(es)

activation of MAPK activity
visual perception
negative regulation of catalytic activity
positive regulation of epidermal growth factor receptor signaling pathway
positive regulation of G-protein coupled receptor protein signaling pathway
response to stimulus

Function(s)

enzyme inhibitor activity
protein binding
cGMP binding
3',5'-cyclic-GMP phosphodiesterase activity