Hs01056651_cn

• Gene Symbol: SMPD3
• Assay Reference Genome Location: Chr.16:68360594 on build GRCh38
• Cytoband: 16q22.1

Target Gene Details

• Entrez Gene ID: 55512
• Gene Name: sphingomyelin phosphodiesterase 3
• Gene Aliases: NSMASE2
• Location: Chr.16:68358327-68448703 on Build GRCh38
• Assay Gene Location: Within Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMPD3	NM_018667.3	9	3002	NP_061137.1
	XM_005256031.3	9	3095	XP_005256088.1
	XM_005256032.3	9	3114	XP_005256089.1
	XM_011523207.1	10	3095	XP_011521509.1
	XM_011523208.2	8	3196	XP_011521510.1
	XM_011523209.2	8	2979	XP_011521511.1
	XM_017023405.1	9	2921	XP_016878894.1
	XM_017023406.1	10	3402	XP_016878895.1
	XM_017023407.1	10	3124	XP_016878896.1
	XM_017023408.1	10	3078	XP_016878897.1
	AL157660.1
	BI196095.1	1	350
	CA424980.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3582280	Chr.16:68348088 - 68360930 on Build GRCh38	Loss	SMPD3 PRMT7

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

hematopoietic progenitor cell differentiation
sphingomyelin catabolic process
glycosphingolipid metabolic process
cell cycle
peptide hormone secretion
positive regulation of exosomal secretion
positive regulation of ceramide biosynthetic process

Function(s)

sphingomyelin phosphodiesterase activity
metal ion binding