Hs07164143_cn

• Gene Symbol: SAMHD1
• Assay Reference Genome Location: Chr.20:36895431 on build GRCh38
• Cytoband: 20q11.23

Target Gene Details

• Entrez Gene ID: 25939
• Gene Name: SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
• Gene Aliases: CHBL2, DCIP, HDDC1, MOP-5, SBBI88
• Location: Chr.20:36890882-36951843 on Build GRCh38
• Assay Gene Location: Within Intron 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SAMHD1	NM_015474.3			NP_056289.2
	XM_005260384.3			XP_005260441.1
	XM_011528761.2			XP_011527063.1
	AB013847.1			BAB18916.1
	AB208944.1			BAD92181.1
	AF228421.1			AAF32407.1
	AK027811.1			BAB55386.1
	AK304187.1
	AK311150.1
	AK315169.1
	AL050267.1			CAB43368.1
	BC036450.2			AAH36450.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv585944	Chr.20:36893597 - 36895806 on Build GRCh38	Loss	SAMHD1 TLDC2
nsv1057845	Chr.20:36855609 - 36916270 on Build GRCh38	Gain	SOGA1 SAMHD1 TLDC2
dgv7563n54	Chr.20:36894776 - 36895806 on Build GRCh38	Loss	SAMHD1
esv27677	Chr.20:36894798 - 36895886 on Build GRCh38	Loss	SAMHD1
dgv7564n54	Chr.20:36895055 - 36895806 on Build GRCh38	Loss	SAMHD1
esv2677733	Chr.20:36894399 - 36896140 on Build GRCh38	Deletion	SAMHD1
esv3645746	Chr.20:36894398 - 36896144 on Build GRCh38	Loss	SAMHD1

More Information

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

Panther Classification:

Molecular Function -

hydrolase

Gene Ontology Categories:

Process(es)

dGTP catabolic process
immune response
regulation of innate immune response
dATP catabolic process
protein homotetramerization
defense response to virus
type I interferon signaling pathway

Function(s)

nucleic acid binding
RNA binding
protein binding
zinc ion binding
dGTPase activity
dGTP binding