Hs04108254_cn

• Gene Symbol: ATP6AP2
• Assay Reference Genome Location: Chr.X:40586628 on build GRCh38
• Cytoband: Xp11.4

Target Gene Details

• Entrez Gene ID: 10159
• Gene Name: ATPase H+ transporting accessory protein 2
• Gene Aliases: APT6M8-9, ATP6IP2, ATP6M8-9, ELDF10, HT028, M8-9, MRXE, MRXSH, MSTP009, PRR, RENR, XMRE, XPDS
• Location: Chr.X:40580964-40606637 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP6AP2	NM_005765.2			NP_005756.2
	AF109363.1			AAQ13511.1
	AF248966.1			AAG44564.1
	AF291814.1			AAM47531.1
	AK075382.1			BAC11582.1
	AK293510.1
	AK296614.1
	AK297007.1
	AK297760.1
	AK314633.1
	AK315948.1
	AY038990.1			AAK83467.1
	BC084541.1			AAH84541.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470350	Chr.X:40540044 - 40624703 on Build GRCh38	Gain	MPC1L ATP6AP2
nsv518965	Chr.X:40569250 - 40754042 on Build GRCh38	Gain	CXorf38 MPC1L MED14OS ATP6AP2 MED14
esv33829	Chr.X:40117374 - 40692316 on Build GRCh38	Loss	CXorf38 MPC1L BCOR LOC101927476 ATP6AP2 MED14

More Information

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

Panther Classification:

Molecular Function -

transmembrane signal receptor