Hs06091266_cn

• Gene Symbol: ATP6V0E1
• Assay Reference Genome Location: Chr.5:173022130 on build GRCh38
• Cytoband: 5q35.1

Target Gene Details

• Entrez Gene ID: 8992
• Gene Name: ATPase H+ transporting V0 subunit e1
• Gene Aliases: ATP6H, ATP6V0E, M9.2, Vma21, Vma21p
• Location: Chr.5:172983760-173034897 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP6V0E1	NM_003945.3			NP_003936.1
	BC119714.1
	BC119715.1
	BF691381.1
	Y15286.1			CAA75571.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv830555	Chr.5:172866675 - 173034104 on Build GRCh38	Loss	RPL26L1 SNORA74B ATP6V0E1 ERGIC1 LOC100268168

More Information

Additional Information:

For this assay, SNP(s) [rs73329286] 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 -

ATP synthase

Gene Ontology Categories:

Process(es)

vacuolar acidification
insulin receptor signaling pathway
ATP hydrolysis coupled proton transport
proton transport
cell growth
regulation of macroautophagy
transferrin transport
ion transmembrane transport
phagosome acidification

Function(s)

transporter activity
ATPase coupled ion transmembrane transporter activity
proton-transporting ATPase activity, rotational mechanism