Hs04014715_cn

• Gene Symbol: CACNG8
• Assay Reference Genome Location: Chr.19:53977547 on build GRCh38
• Cytoband: 19q13.42

Target Gene Details

• Entrez Gene ID: 59283
• Gene Name: calcium voltage-gated channel auxiliary subunit gamma 8
• Gene Aliases: -
• Location: Chr.19:53963036-53990215 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CACNG8	NM_031895.5			NP_114101.4
	AF234892.1			AAK15019.1
	AF288388.1			AAK20031.1
	AF361354.1			AAL50049.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv580110	Chr.19:53961144 - 54093354 on Build GRCh38	Gain	TARM1 CACNG8 MIR935 VSTM1 CACNG6
nsv1063127	Chr.19:53926876 - 54068977 on Build GRCh38	Gain	CACNG7 CACNG8 MIR935 VSTM1 CACNG6
esv2718812	Chr.19:53184636 - 54322450 on Build GRCh38	Deletion	CACNG7 VN1R2 ZNF845 MIR516A1 VSTM1 LILRB5 RPS9 MIR521-2 MIR516B1 MIR520B MIR517A MIR498 TARM1 TMC4 MIR519C MIR4752 MIR518B MIR519B MIR372 MIR518F MIR518C MIR1283-2 MIR522 LENG1 TSEN34 MIR520H MIR512-2 DPRX LILRA5 TFPT MIR512-1 MIR526B MIR935 NDUFA3 LILRA6 MIR523 CNOT3 MIR518A2 LOC105372457 MIR520A MIR519A1 MIR520C ZNF813 MIR517B BIRC8 MIR371A MIR526A2 OSCAR ZNF761 ZNF677 MIR519A2 PRKCG LILRB3 MYADM ZNF818P TPM3P9 MIR518D MIR518E ZNF525 MIR519E MIR527 MIR526A1 MIR518A1 MIR1283-1 MIR520G MIR520E CACNG6 ZNF765 MIR371B MIR525 MIR516A2 ZNF331 MIR515-2 NLRP12 PRPF31 CACNG8 MIR1323 MIR516B2 LOC284379 MIR524 MIR515-1 FAM90A27P MBOAT7 MIR373 MIR517C MIR520D LILRB2 MIR520F ZNF665 MIR521-1 MIR519D VN1R4
nsv833877	Chr.19:53951529 - 54117323 on Build GRCh38	Loss	TFPT PRPF31 TARM1 CACNG8 MIR935 VSTM1 NDUFA3 OSCAR CACNG6
nsv833876	Chr.19:53845956 - 53995117 on Build GRCh38	Loss	PRKCG LOC105372457 CACNG7 CACNG8 MIR935 MYADM CACNG6

More Information

Additional Information:

For this assay, SNP(s) [rs79728451] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

voltage-gated ion channel

Gene Ontology Categories:

Process(es)

calcium ion transport
transmission of nerve impulse
cardiac conduction
calcium ion transmembrane transport
regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity

Function(s)

voltage-gated calcium channel activity
channel regulator activity