Hs04821529_cn

• Gene Symbol: SGMS2
• Assay Reference Genome Location: Chr.4:107824258 on build GRCh38
• Cytoband: 4q25

Target Gene Details

• Entrez Gene ID: 166929
• Gene Name: sphingomyelin synthase 2
• Gene Aliases: SMS2
• Location: Chr.4:107823645-107915047 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SGMS2	XM_011531701.2	1	614	XP_011530003.1
	XM_011531702.2	1	614	XP_011530004.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv830031	Chr.4:107724456 - 107883976 on Build GRCh38	Gain	SGMS2 LOC101929595

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

sphingomyelin biosynthetic process
phosphorylation
sphingolipid biosynthetic process

Function(s)

kinase activity
sphingomyelin synthase activity
ceramide cholinephosphotransferase activity