Hs04596248_cn

• Gene Symbol: CNGA3
• Assay Reference Genome Location: Chr.2:98385179 on build GRCh38
• Cytoband: 2q11.2

Target Gene Details

• Entrez Gene ID: 1261
• Gene Name: cyclic nucleotide gated channel alpha 3
• Gene Aliases: ACHM2, CCNC1, CCNCa, CCNCalpha, CNCG3, CNG3
• Location: Chr.2:98346155-98399154 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CNGA3	NM_001079878.1			NP_001073347.1
	NM_001298.2			NP_001289.1
	XM_006712243.2			XP_006712306.1
	XM_011510554.2			XP_011508856.1
	AF065314.1			AAC17440.1
	AK131300.1			BAD18468.1
	AK308149.1
	BC096298.1			AAH96298.1
	BC096299.1			AAH96299.1
	BC096300.1			AAH96300.1
	DR002103.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv518056	Chr.2:97970379 - 98539833 on Build GRCh38	Gain	VWA3B INPP4A CNGA3 TMEM131
nsv1013617	Chr.2:98326914 - 98387710 on Build GRCh38	Loss	VWA3B CNGA3

More Information

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

Panther Classification:

Molecular Function -

ligand-gated ion channel

Gene Ontology Categories:

Process(es)

transport
cation transport
signal transduction
visual perception
response to corticosteroid
response to magnesium ion
regulation of membrane potential
response to cAMP
potassium ion transmembrane transport

Function(s)

intracellular cAMP activated cation channel activity
intracellular cGMP activated cation channel activity
voltage-gated potassium channel activity
protein C-terminus binding
ligand-gated ion channel activity
cGMP binding