Hs05958830_cn

• Gene Symbol: MCUB
• Assay Reference Genome Location: Chr.4:109600531 on build GRCh38
• Cytoband: 4q25

Target Gene Details

• Entrez Gene ID: 55013
• Gene Name: mitochondrial calcium uniporter dominant negative beta subunit
• Gene Aliases: CCDC109B
• Location: Chr.4:109560199-109688719 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MCUB	NM_017918.4			NP_060388.2
	XM_006714246.3			XP_006714309.1
	AK095936.1
	AK291098.1
	AK311030.1
	BC002633.2			AAH02633.1
	CN427680.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv595129	Chr.4:109000908 - 109672304 on Build GRCh38	Gain	SEC24B MCUB ZCCHC23 SEC24B-AS1 MIR576 COL25A1

More Information

Additional Information:

For this assay, SNP(s) [rs117834594] 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

Gene Ontology Categories:

Process(es)

mitochondrial calcium ion transport
calcium ion transmembrane import into mitochondrion
mitochondrial calcium ion homeostasis

Function(s)

ion channel activity
calcium channel activity
uniporter activity
calcium channel inhibitor activity