Hs01438540_cn

• Gene Symbol: CACNB1
• Assay Reference Genome Location: Chr.17:39173682 on build GRCh38
• Cytoband: 17q12

Target Gene Details

• Entrez Gene ID: 782
• Gene Name: calcium voltage-gated channel auxiliary subunit beta 1
• Gene Aliases: CAB1, CACNLB1, CCHLB1
• Location: Chr.17:39173456-39197703 on Build GRCh38
• Assay Gene Location: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CACNB1	NM_000723.4	14	3516	NP_000714.3
	BC037311.1	14	3453	AAH37311.2
	M92303.1	14	3457	AAA35633.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833440	Chr.17:39033205 - 39210437 on Build GRCh38	Loss	PLXDC1 ARL5C LRRC37A11P RPL19 LOC100131347 CACNB1
esv3893012	Chr.17:39172813 - 39177990 on Build GRCh38	Loss	CACNB1
nsv833441	Chr.17:39164554 - 39320543 on Build GRCh38	Loss	LOC101929578 STAC2 ARL5C FBXL20 RPL19 CACNB1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

voltage-gated ion channel

Gene Ontology Categories:

Process(es)

transport
chemical synaptic transmission
neuromuscular junction development
cardiac conduction
calcium ion transmembrane transport
regulation of voltage-gated calcium channel activity

Function(s)

voltage-gated calcium channel activity
high voltage-gated calcium channel activity
protein kinase binding
protein domain specific binding
phosphoprotein binding