Hs05287345_cn

• Gene Symbol: PCCA
• Assay Reference Genome Location: Chr.13:100092809 on build GRCh38
• Cytoband: 13q32.3

Target Gene Details

• Entrez Gene ID: 5095
• Gene Name: propionyl-CoA carboxylase alpha subunit
• Gene Aliases: -
• Location: Chr.13:100089015-100530437 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCCA	NM_000282.3			NP_000273.2
	NM_001127692.2			NP_001121164.1
	NM_001178004.1			NP_001171475.1
	XM_005254059.2			XP_005254116.1
	XM_011521093.1			XP_011519395.1
	XM_017020605.1			XP_016876094.1
	XM_017020606.1			XP_016876095.1
	XM_017020607.1			XP_016876096.1
	XM_017020608.1			XP_016876097.1
	XM_017020609.1			XP_016876098.1
	XM_017020611.1			XP_016876100.1
	XM_017020612.1			XP_016876101.1
	XM_017020613.1			XP_016876102.1
	XM_017020614.1			XP_016876103.1
	XM_017020615.1			XP_016876104.1
	XM_017020616.1			XP_016876105.1
	AF385926.1			AAL66189.1
	AK225288.1
	AK225299.1
	AK296771.1
	AK298318.1
	AK315503.1
	BC000140.2			AAH00140.1
	DA781564.1
	X14608.1			CAA32763.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832697	Chr.13:99936254 - 100109792 on Build GRCh38	Loss	ZIC5 LOC105370333 LOC101927437 LINC00554 ZIC2 PCCA
nsv832698	Chr.13:100068689 - 100238635 on Build GRCh38	Loss	LOC105370333 PCCA
nsv509512	Chr.13:100039611 - 100109620 on Build GRCh38	Insertion	LOC105370333 PCCA

More Information

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

Panther Classification:

Molecular Function -

ligase

Gene Ontology Categories:

Process(es)

biotin metabolic process
short-chain fatty acid catabolic process

Function(s)

biotin carboxylase activity
propionyl-CoA carboxylase activity
ATP binding
biotin binding
enzyme binding
metal ion binding