Hs01659292_cn

• Gene Symbol: SMPD3
• Assay Reference Genome Location: Chr.16:68359419 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	4177	NP_061137.1
	XM_005256031.3	9	4270	XP_005256088.1
	XM_005256032.3	9	4289	XP_005256089.1
	XM_011523207.1	10	4270	XP_011521509.1
	XM_011523208.2	8	4371	XP_011521510.1
	XM_011523209.2	8	4154	XP_011521511.1
	XM_017023405.1	9	4096	XP_016878894.1
	XM_017023406.1	10	4577	XP_016878895.1
	XM_017023407.1	10	4299	XP_016878896.1
	XM_017023408.1	10	4253	XP_016878897.1
	AK026246.1	1	335	BAB15409.1

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	PRMT7 SMPD3

More Information

Additional Information:

For this assay, SNP(s) [rs145404694] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• 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