Hs02922372_cn

• Gene Symbol: SGMS1
• Assay Reference Genome Location: Chr.10:50305823 on build GRCh38
• Cytoband: 10q11.23

Target Gene Details

• Entrez Gene ID: 259230
• Gene Name: sphingomyelin synthase 1
• Gene Aliases: MOB, MOB1, SMS1, TMEM23, hmob33
• Location: Chr.10:50305585-50623977 on Build GRCh38
• Assay Gene Location: Within Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SGMS1	NM_147156.3	11	3515	NP_671512.1
	XM_005269675.1	6	3207	XP_005269732.1
	XM_011539582.2	8	3119	XP_011537884.1
	XM_011539583.2	6	2996	XP_011537885.1
	AY280959.1	11	3481	AAP37279.1
	BC042899.1	5	2776	AAH42899.1
	BM141853.1	1	228
	Y14155.1	1	1346

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv521273	Chr.10:50291885 - 50438087 on Build GRCh38	Gain	SGMS1
esv3891809	Chr.10:50242444 - 50647850 on Build GRCh38	Gain	SGMS1-AS1 ASAH2 SGMS1
nsv1053293	Chr.10:50222199 - 50342889 on Build GRCh38	Gain	ASAH2 SGMS1
nsv1051087	Chr.10:49977683 - 50687535 on Build GRCh38	Loss	SGMS1-AS1 ASAH2 TIMM23B AGAP6 FAM21EP FAM21A SGMS1
esv2762864	Chr.10:50271185 - 50347655 on Build GRCh38	Gain	SGMS1
dgv853n100	Chr.10:50014227 - 50407682 on Build GRCh38	Gain	ASAH2 FAM21EP FAM21A SGMS1
esv3623195	Chr.10:50270575 - 50358411 on Build GRCh38	Gain	SGMS1

More Information

Additional Information:

For this assay, SNP(s) [rs73328988] 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)

sphingomyelin biosynthetic process
apoptotic process
cell growth
phosphorylation
sphingolipid biosynthetic process

Function(s)

kinase activity
sphingomyelin synthase activity
ceramide cholinephosphotransferase activity