Hs06548727_cn

• Gene Symbol: ATP6V1G3
• Assay Reference Genome Location: Chr.1:198536243 on build GRCh38
• Cytoband: 1q31.3

Target Gene Details

• Entrez Gene ID: 127124
• Gene Name: ATPase H+ transporting V1 subunit G3
• Gene Aliases: ATP6G3, Vma10
• Location: Chr.1:198523222-198540945 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP6V1G3	NM_001320218.1			NP_001307147.1
	NM_133262.2			NP_573569.1
	NM_133326.1			NP_579872.1
	XM_006711163.3			XP_006711226.1
	XM_011509186.2			XP_011507488.1
	XM_011509187.2			XP_011507489.1
	AY039760.1			AAK83465.1
	BC101129.2			AAI01130.1
	BC101130.1			AAI01131.1
	BC101131.2
	BF509031.1
	BX114684.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv548903	Chr.1:198519360 - 198620446 on Build GRCh38	Loss	ATP6V1G3
esv3588521	Chr.1:198316592 - 198769083 on Build GRCh38	Loss	PTPRC NEK7 ATP6V1G3
nsv1004900	Chr.1:198516035 - 198549828 on Build GRCh38	Loss	ATP6V1G3
nsv832259	Chr.1:198421101 - 198561067 on Build GRCh38	Gain	ATP6V1G3

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ATP synthase

Gene Ontology Categories:

Process(es)

insulin receptor signaling pathway
transferrin transport
ion transmembrane transport
phagosome acidification
hydrogen ion transmembrane transport

Function(s)

hydrogen-exporting ATPase activity, phosphorylative mechanism
ATPase binding