Hs00809060_cn

• Gene Symbol: FADS1
• Assay Reference Genome Location: Chr.11:61799702 on build GRCh38
• Cytoband: 11q12.2

Target Gene Details

• Entrez Gene ID: 3992
• Gene Name: fatty acid desaturase 1
• Gene Aliases: D5D, FADS6, FADSD5, LLCDL1, TU12
• Location: Chr.11:61799625-61817057 on Build GRCh38
• Assay Gene Location: Within Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FADS1	NM_013402.4	12	4343	NP_037534.3
	AF084558.1	12	4122	AAG23120.1
	AF271778.1	1	1196	AAG44789.1
	AI052027.1	1	90
	AL512760.1	12	4124	CAC21679.1
	AL834479.1	4	2986	CAD39138.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv528697	Chr.11:61690385 - 61919561 on Build GRCh38	Loss	MIR611 DKFZP434K028 FADS3 LOC100129473 MIR6746 FADS2 TMEM258 FEN1 RAB3IL1 DAGLA MYRF FADS1 MIR1908
nsv343	Chr.11:61770698 - 61802486 on Build GRCh38	Insertion	TMEM258 MIR611 FEN1 MYRF FADS1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of transcription, DNA-templated
unsaturated fatty acid biosynthetic process
cell-cell signaling
phospholipid biosynthetic process
cellular response to starvation
alpha-linolenic acid metabolic process
linoleic acid metabolic process
regulation of cell differentiation
icosanoid biosynthetic process
oxidation-reduction process

Function(s)

C-5 sterol desaturase activity
oxidoreductase activity
omega-6 fatty acid desaturase activity