Hs01468601_cn

• Gene Symbol: FADS1
• Assay Reference Genome Location: Chr.11:61801251 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	2794	NP_037534.3
	XM_011545022.2	12	2468	XP_011543324.1
	AF035284.1	1	733
	AF084558.1	12	2573	AAG23120.1
	AL512760.1	12	2575	CAC21679.1
	AL834479.1	4	1437	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	DAGLA TMEM258 LOC100129473 FEN1 FADS2 MIR6746 MYRF RAB3IL1 FADS3 MIR1908 MIR611 DKFZP434K028 FADS1
nsv343	Chr.11:61770698 - 61802486 on Build GRCh38	Insertion	MYRF TMEM258 FEN1 MIR611 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