Hs03880002_cn

• Gene Symbol: CYP46A1
• Assay Reference Genome Location: Chr.14:99685156 on build GRCh38
• Cytoband: 14q32.2

Target Gene Details

• Entrez Gene ID: 10858
• Gene Name: cytochrome P450 family 46 subfamily A member 1
• Gene Aliases: CP46, CYP46
• Location: Chr.14:99684262-99727321 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CYP46A1	NM_006668.1			NP_006659.1
	XM_011536364.1			XP_011534666.1
	XM_017020933.1			XP_016876422.1
	AB209749.1			BAD92986.1
	AF094480.1			AAD41244.1
	AK295216.1
	BC022539.1			AAH22539.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv565733	Chr.14:99522709 - 100097807 on Build GRCh38	Gain	EVL CCDC85C LOC102724682 EML1 HHIPL1 CYP46A1
esv3635488	Chr.14:99660725 - 99718739 on Build GRCh38	Gain	HHIPL1 CYP46A1
nsv565763	Chr.14:99683165 - 99767016 on Build GRCh38	Loss	EML1 CYP46A1
nsv470667	Chr.14:99658311 - 99742653 on Build GRCh38	Loss	EML1 HHIPL1 CYP46A1
nsv1046296	Chr.14:99640025 - 99723163 on Build GRCh38	Gain	HHIPL1 CYP46A1

More Information

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

Panther Classification:

Molecular Function -

oxidoreductase, oxygenase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

bile acid biosynthetic process
cholesterol catabolic process
xenobiotic metabolic process
nervous system development
sterol metabolic process
oxidation-reduction process

Function(s)

iron ion binding
steroid hydroxylase activity
heme binding
cholesterol 24-hydroxylase activity