Hs02485952_cn

• Gene Symbol: CNGB3
• Assay Reference Genome Location: Chr.8:86575035 on build GRCh38
• Cytoband: 8q21.3

Target Gene Details

• Entrez Gene ID: 54714
• Gene Name: cyclic nucleotide gated channel beta 3
• Gene Aliases: ACHM1
• Location: Chr.8:86573608-86743675 on Build GRCh38
• Assay Gene Location: Within Exon 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CNGB3	NM_019098.4	18	3247	NP_061971.3
	XM_011517138.2	16	2902	XP_011515440.1
	AF272900.1	18	3245	AAF86274.1
	BX118844.1	1	130

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2422239	Chr.8:86535165 - 87814698 on Build GRCh38	Duplication	CPNE3 CNBD1 CNGB3
nsv1023510	Chr.8:86416772 - 86862720 on Build GRCh38	Loss	RMDN1 WWP1 CPNE3 CNGB3

More Information

Additional Information:

For this assay, SNP(s) [rs73269601] 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 -

ligand-gated ion channel

Gene Ontology Categories:

Process(es)

transport
cation transport
signal transduction
visual perception
regulation of membrane potential
potassium ion transmembrane transport

Function(s)

intracellular cAMP activated cation channel activity
intracellular cGMP activated cation channel activity
voltage-gated potassium channel activity
cGMP binding