Hs03004569_cn

• Gene Symbol: CACNB1
• Assay Reference Genome Location: Chr.17:39174128 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	3070	NP_000714.3
	XM_005257645.2	14	3140	XP_005257702.1
	XM_006722072.2	13	2871	XP_006722135.1
	XM_017025024.1	14	3010	XP_016880513.1
	XM_017025025.1	13	2736	XP_016880514.1
	XM_017025026.1	13	2901	XP_016880515.1
	XM_017025027.1	13	2963	XP_016880516.1
	XM_017025028.1	14	3429	XP_016880517.1
	XM_017025029.1	14	2921	XP_016880518.1
	AB054985.1	14	3023	BAB21444.1
	AB209176.1	12	4981	BAD92413.1
	AK127283.1	12	3749
	BC037311.1	14	3007	AAH37311.2
	M92303.1	14	3011	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	LOC100131347 CACNB1 PLXDC1 LRRC37A11P RPL19 ARL5C
esv3893012	Chr.17:39172813 - 39177990 on Build GRCh38	Loss	CACNB1
nsv833441	Chr.17:39164554 - 39320543 on Build GRCh38	Loss	STAC2 FBXL20 LOC101929578 CACNB1 RPL19 ARL5C

More Information

Additional Information:

For this assay, SNP(s) [rs74575123] 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 -

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