Hs05112329_cn

• Gene Symbol: PPA1
• Assay Reference Genome Location: Chr.10:70211826 on build GRCh38
• Cytoband: 10q22.1

Target Gene Details

• Entrez Gene ID: 5464
• Gene Name: pyrophosphatase (inorganic) 1
• Gene Aliases: HEL-S-66p, IOPPP, PP, PP1, SID6-8061
• Location: Chr.10:70202830-70233434 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PPA1	NM_021129.3			NP_066952.1
	AB026723.1			BAA84702.1
	AF092439.1			AAP97214.1
	AF108211.1			AAD24964.1
	AF119665.1			AAF17222.1
	AF154065.1			AAD34643.1
	AF217186.1			AAG36780.1
	AK058193.1
	BC001022.2
	BC061581.1
	BC105034.1			AAI05035.1
	BC105036.1			AAI05037.1
	BC107882.1			AAI07883.1
	BU520836.1
	EU794626.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv32737	Chr.10:69504230 - 70786847 on Build GRCh38	Gain+Loss	PALD1 AIFM2 SAR1A NODAL EIF4EBP2 PPA1 LRRC20 NEUROG3 PRF1 COL13A1 C10orf35 NPFFR1 TYSND1 H2AFY2 ADAMTS14 TBATA TSPAN15
nsv831908	Chr.10:70210726 - 70389945 on Build GRCh38	Gain	NPFFR1 PPA1 LRRC20

More Information

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

Panther Classification:

Molecular Function -

pyrophosphatase

Gene Ontology Categories:

Process(es)

tRNA aminoacylation for protein translation
phosphate-containing compound metabolic process
diphosphate metabolic process

Function(s)

magnesium ion binding
inorganic diphosphatase activity