Hs02387706_cn

• Gene Symbol: CNGB1
• Assay Reference Genome Location: Chr.16:57901370 on build GRCh38
• Cytoband: 16q21

Target Gene Details

• Entrez Gene ID: 1258
• Gene Name: cyclic nucleotide gated channel beta 1
• Gene Aliases: CNCG2, CNCG3L, CNCG4, CNG4, CNGB1B, GAR1, GARP, GARP2, RCNC2, RCNCb, RCNCbeta, RP45
• Location: Chr.16:57882340-57971116 on Build GRCh38
• Assay Gene Location: Overlaps Intron 32 - Exon 32

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CNGB1	NM_001286130.1			NP_001273059.1
	NM_001297.4			NP_001288.3
	XM_011522870.2			XP_011521172.1
	AF042498.1			AAC04830.1
	U58837.1			AAB63387.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1062660	Chr.16:57848645 - 57945049 on Build GRCh38	Gain	CNGB1 KIFC3

More Information

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

Panther Classification:

Molecular Function -

ligand-gated ion channel

Gene Ontology Categories:

Process(es)

retina homeostasis
transport
cation transport
visual perception
sensory perception of smell
rhodopsin mediated signaling pathway
regulation of rhodopsin mediated signaling pathway
protein localization to organelle
photoreceptor cell outer segment organization
regulation of membrane potential
photoreceptor cell maintenance
detection of light stimulus involved in visual perception
potassium ion transmembrane transport

Function(s)

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