Hs01804567_cn

• Gene Symbol: PCCB
• Assay Reference Genome Location: Chr.3:136317064 on build GRCh38
• Cytoband: 3q22.3

Target Gene Details

• Entrez Gene ID: 5096
• Gene Name: propionyl-CoA carboxylase beta subunit
• Gene Aliases: -
• Location: Chr.3:136250325-136330171 on Build GRCh38
• Assay Gene Location: Overlaps Exon 11 - Intron 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCCB	NM_000532.4			NP_000523.2
	NM_001178014.1			NP_001171485.1
	XM_011512873.1			XP_011511175.1
	AB209009.1			BAD92246.1
	AF217984.1			AAG17227.1
	AK130359.1
	AK225215.1
	AK225733.1
	AK295312.1
	AK302522.1
	AK303079.1
	AL831978.2			CAD89898.1
	BC013768.1			AAH13768.1
	BC018013.1			AAH18013.1
	BC053661.1			AAH53661.1
	M13573.1			AAA60036.1
	S67325.1			AAB28900.1
	X73424.1			CAA51825.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv508246	Chr.3:136203181 - 136319780 on Build GRCh38	Deletion	PCCB
nsv4025	Chr.3:136298616 - 136346780 on Build GRCh38	Deletion	STAG1 PCCB

More Information

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

Panther Classification:

Molecular Function -

ligase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

biotin metabolic process
short-chain fatty acid catabolic process

Function(s)

propionyl-CoA carboxylase activity
ATP binding