Hs00226279_cn

• Gene Symbol: ATP6V1B2
• Assay Reference Genome Location: Chr.8:20220883 on build GRCh38
• Cytoband: 8p21.3

Target Gene Details

• Entrez Gene ID: 526
• Gene Name: ATPase H+ transporting V1 subunit B2
• Gene Aliases: ATP6B1B2, ATP6B2, DOOD, HO57, VATB, VPP3, Vma2, ZLS2
• Location: Chr.8:20197193-20226852 on Build GRCh38
• Assay Gene Location: Within Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP6V1B2	NM_001693.3	14	2231	NP_001684.2
	AB208806.1	11	6101	BAD92043.1
	AK127443.1	1	2224
	BC003100.1	14	2033	AAH03100.1
	BC007309.1	14	1988	AAH07309.1
	BC030640.2	14	2043	AAH30640.1
	L35249.1	14	2020	AAA58661.1
	M60346.1	11	1702	AAA35610.1
	X62949.1	14	2042	CAA44721.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv522185	Chr.8:19097292 - 20497802 on Build GRCh38	Gain	SLC18A1 LZTS1 ATP6V1B2 LOC100128993 SH2D4A INTS10 CSGALNACT1 LZTS1-AS1 LPL
nsv1033511	Chr.8:19893788 - 20767580 on Build GRCh38	Gain	SLC18A1 LZTS1 ATP6V1B2 LZTS1-AS1 LPL
nsv6107	Chr.8:20198643 - 20243283 on Build GRCh38	Deletion	ATP6V1B2

More Information

Additional Information:

For this assay, SNP(s) [rs73669746] 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
ATP hydrolysis coupled proton transport
proton transport
regulation of macroautophagy
transferrin transport
ion transmembrane transport
ATP metabolic process
phagosome acidification

Function(s)

protein binding
ATP binding
hydrogen ion transmembrane transporter activity
proton-transporting ATPase activity, rotational mechanism