Hs00543992_cn

• Gene Symbol: OXSM
• Assay Reference Genome Location: Chr.3:25794354 on build GRCh38
• Cytoband: 3p24.2

Target Gene Details

• Entrez Gene ID: 54995
• Gene Name: 3-oxoacyl-ACP synthase, mitochondrial
• Gene Aliases: FASN2D, KASI, KS
• Location: Chr.3:25783661-25794534 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
OXSM	NM_001145391.1	4	1098	NP_001138863.1
	NM_017897.2	3	1347	NP_060367.1
	NR_026937.1	4	893
	XM_006713216.3	3	8427	XP_006713279.1
	XM_006713217.3	4	7973	XP_006713280.1
	XM_017006713.1	2	8600	XP_016862202.1
	XM_017006714.1	3	8146	XP_016862203.1
	AK000611.1	3	1339	BAA91286.1
	AK225260.1	4	1076
	AK304821.1	4	875
	BC008202.1	3	1316	AAH08202.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3893676	Chr.3:24984204 - 26577498 on Build GRCh38	Loss	LINC00692 LOC105376997 TOP2B MIR4442 NGLY1 OXSM RARB
dgv71n17	Chr.3:25786051 - 25816479 on Build GRCh38	Loss	NGLY1 OXSM
esv2763742	Chr.3:25788356 - 25868676 on Build GRCh38	Gain	LINC00692 NGLY1 OXSM

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

acyl-CoA metabolic process
short-chain fatty acid biosynthetic process
medium-chain fatty acid biosynthetic process

Function(s)

3-oxoacyl-[acyl-carrier-protein] synthase activity