Hs00531052_cn

• Gene Symbol: OXSM
• Assay Reference Genome Location: Chr.3:25791218 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
OXSM	NM_001145391.1	2	305	NP_001138863.1
	NM_017897.2	2	305	NP_060367.1
	NR_026937.1	2	305
	XM_006713216.3	2	7385	XP_006713279.1
	XM_006713217.3	2	7385	XP_006713280.1
	XM_017006713.1	1	7558	XP_016862202.1
	XM_017006714.1	1	7558	XP_016862203.1
	AK000611.1	2	297	BAA91286.1
	AK225260.1	2	283
	AK304821.1	2	287
	BC008202.1	2	274	AAH08202.1
	DA916187.1	2	305

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	TOP2B LINC00692 NGLY1 OXSM RARB MIR4442 LOC105376997
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