Hs05463219_cn

• Gene Symbol: FA2H
• Assay Reference Genome Location: Chr.16:74739674 on build GRCh38
• Cytoband: 16q23.1

Target Gene Details

• Entrez Gene ID: 79152
• Gene Name: fatty acid 2-hydroxylase
• Gene Aliases: FAAH, FAH1, FAXDC1, SCS7, SPG35
• Location: Chr.16:74712955-74774831 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FA2H	NM_024306.4			NP_077282.3
	XM_011523317.2			XP_011521619.1
	XM_011523319.2			XP_011521621.1
	AJ278219.1			CAC20436.1
	AK058016.1			BAB71632.1
	AK303878.1
	AK315512.1
	BC002679.2			AAH02679.2
	BC004263.1			AAH04263.2
	BC017049.1			AAH17049.2
	DA890369.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv572976	Chr.16:74725086 - 74873542 on Build GRCh38	Gain	FA2H
nsv517513	Chr.16:74709838 - 74778778 on Build GRCh38	Loss	FA2H
nsv952054	Chr.16:74710903 - 74740502 on Build GRCh38	Deletion	FA2H

More Information

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

Panther Classification:

Molecular Function -

hydroxylase

Gene Ontology Categories:

Process(es)

sebaceous gland cell differentiation
fatty acid metabolic process
fatty acid biosynthetic process
sphingolipid biosynthetic process
lipid modification
central nervous system myelin maintenance
peripheral nervous system myelin maintenance
regulation of cell proliferation
regulation of hair cycle
oxidation-reduction process

Function(s)

iron ion binding
heme binding
fatty acid alpha-hydroxylase activity