Hs01380872_cn

• Gene Symbol: ATP6V1G1
• Assay Reference Genome Location: Chr.9:114598491 on build GRCh38
• Cytoband: 9q32

Target Gene Details

• Entrez Gene ID: 9550
• Gene Name: ATPase H+ transporting V1 subunit G1
• Gene Aliases: ATP6G, ATP6G1, ATP6GL, ATP6J, Vma10
• Location: Chr.9:114587714-114598872 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP6V1G1	NM_004888.3	3	1230	NP_004879.1
	AI092246.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv948n27	Chr.9:114193988 - 114693895 on Build GRCh38	Gain	LOC100505478 AKNA COL27A1 MIR455 ATP6V1G1 ORM2 TMEM268 ORM1 WHRN
nsv831694	Chr.9:114566360 - 114740505 on Build GRCh38	Gain	LOC100505478 ATP6V1G1 TMEM268
dgv7706n100	Chr.9:114182745 - 114697870 on Build GRCh38	Gain	LOC100505478 AKNA COL27A1 MIR455 ATP6V1G1 ORM2 TMEM268 ORM1 WHRN
dgv33e196	Chr.9:114030664 - 114604363 on Build GRCh38	Duplication	KIF12 AMBP AKNA ZNF618 COL27A1 MIR455 ATP6V1G1 ORM2 TMEM268 ORM1 WHRN

More Information

Additional Information:

For this assay, SNP(s) [rs116299071] 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 -

ATP synthase

Gene Ontology Categories:

Process(es)

insulin receptor signaling pathway
regulation of macroautophagy
transferrin transport
ion transmembrane transport
phagosome acidification
hydrogen ion transmembrane transport

Function(s)

protein binding
hydrogen-exporting ATPase activity, phosphorylative mechanism
ATPase binding