Hs02516678_cn

• Gene Symbol: HMGCS1
• Assay Reference Genome Location: Chr.5:43290997 on build GRCh38
• Cytoband: 5p12

Target Gene Details

• Entrez Gene ID: 3157
• Gene Name: 3-hydroxy-3-methylglutaryl-CoA synthase 1
• Gene Aliases: HMGCS
• Location: Chr.5:43287470-43313512 on Build GRCh38
• Assay Gene Location: Within Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HMGCS1	NM_001098272.2	11	1923	NP_001091742.1
	NM_001324219.1	10	1910	NP_001311148.1
	NM_001324220.1	11	1943	NP_001311149.1
	NM_001324222.1	10	1797	NP_001311151.1
	NM_001324223.1	9	1738	NP_001311152.1
	NM_001324224.1	10	1817	NP_001311153.1
	NM_002130.7	10	1864	NP_002121.4
	XM_011514036.2	8	1729	XP_011512338.1
	XM_017009412.1	11	2003	XP_016864901.1
	AK095492.1	11	1731	BAC04559.1
	BC000297.2	11	1802	AAH00297.2
	BC083514.1	10	1762	AAH83514.1
	L25798.1			AAA62411.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv508352	Chr.5:43237728 - 43390960 on Build GRCh38	Deletion	NIM1K CCL28 HMGCS1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

liver development
lipid metabolic process
cholesterol biosynthetic process
brain development
isoprenoid biosynthetic process
male gonad development
response to low light intensity stimulus
response to purine-containing compound
response to vitamin E
response to drug
response to tellurium ion
response to lipoprotein particle
cellular response to follicle-stimulating hormone stimulus
cellular response to cholesterol

Function(s)

hydroxymethylglutaryl-CoA synthase activity
drug binding
isomerase activity
protein homodimerization activity
organic acid binding