Hs05147225_cn

• Gene Symbol: SAMD8
• Assay Reference Genome Location: Chr.10:75125754 on build GRCh38
• Cytoband: 10q22.2

Target Gene Details

• Entrez Gene ID: 142891
• Gene Name: sterile alpha motif domain containing 8
• Gene Aliases: HEL-177, SMSr
• Location: Chr.10:75099592-75182123 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SAMD8	NM_001174156.1			NP_001167627.1
	NM_144660.2			NP_653261.1
	XM_005269541.4			XP_005269598.1
	XM_011539311.1			XP_011537613.1
	XM_011539312.2			XP_011537614.1
	XM_017015739.1			XP_016871228.1
	AK057811.1			BAB71586.1
	BC080593.1			AAH80593.1
	EU668332.1
	GQ472208.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831913	Chr.10:75101265 - 75261737 on Build GRCh38	Loss	VDAC2 DUSP13 SAMD8 COMTD1
nsv520500	Chr.10:75113848 - 75131338 on Build GRCh38	Loss	SAMD8
dgv927n100	Chr.10:75024700 - 75329039 on Build GRCh38	Gain	VDAC2 ZNF503 DUPD1 DUSP13 ZNF503-AS1 SAMD8 KAT6B COMTD1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

sphingomyelin biosynthetic process
ceramide biosynthetic process
regulation of ceramide biosynthetic process

Function(s)

molecular_function
transferase activity