Hs00822054_cn

• Gene Symbol: OXSM
• Assay Reference Genome Location: Chr.3:25791366 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	453	NP_001138863.1
	NM_017897.2	2	453	NP_060367.1
	NR_026937.1
	XM_006713216.3	2	7533	XP_006713279.1
	XM_006713217.3			XP_006713280.1
	XM_017006713.1	1	7706	XP_016862202.1
	XM_017006714.1			XP_016862203.1
	AK000611.1	2	445	BAA91286.1
	AK225260.1	2	431
	AK304821.1
	BC008202.1	2	422	AAH08202.1
	DA916187.1

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	OXSM LOC105376997 NGLY1 TOP2B RARB MIR4442 LINC00692
dgv71n17	Chr.3:25786051 - 25816479 on Build GRCh38	Loss	OXSM NGLY1
esv2763742	Chr.3:25788356 - 25868676 on Build GRCh38	Gain	OXSM NGLY1 LINC00692

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