Hs04701434_cn

• Gene Symbol: CYP27A1
• Assay Reference Genome Location: Chr.2:218788748 on build GRCh38
• Cytoband: 2q35

Target Gene Details

• Entrez Gene ID: 1593
• Gene Name: cytochrome P450 family 27 subfamily A member 1
• Gene Aliases: CP27, CTX, CYP27
• Location: Chr.2:218781006-218815293 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CYP27A1	NM_000784.3			NP_000775.1
	XM_017003488.1			XP_016858977.1
	AK226039.1
	AK290418.1
	AK310782.1
	AY178622.1			AAO21126.1
	BC040430.1			AAH40430.1
	BC051851.1			AAH51851.1
	M62401.1			AAA52142.1
	X59812.1			CAA42481.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv518750	Chr.2:218751245 - 218804652 on Build GRCh38	Loss	TTLL4 CYP27A1
esv3594349	Chr.2:218756892 - 218789452 on Build GRCh38	Loss	TTLL4 CYP27A1

More Information

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

Panther Classification:

Molecular Function -

oxygenase

Gene Ontology Categories:

Process(es)

bile acid biosynthetic process
sterol metabolic process
oxidation-reduction process

Function(s)

iron ion binding
steroid hydroxylase activity
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
heme binding