Hs06548744_cn

• Gene Symbol: CD247
• Assay Reference Genome Location: Chr.1:167434460 on build GRCh38
• Cytoband: 1q24.2

Target Gene Details

• Entrez Gene ID: 919
• Gene Name: CD247 molecule
• Gene Aliases: CD3-ZETA, CD3H, CD3Q, CD3Z, IMD25, T3Z, TCRZ
• Location: Chr.1:167430640-167518610 on Build GRCh38
• Assay Gene Location: Within Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CD247	NM_000734.3			NP_000725.1
	NM_198053.2			NP_932170.1
	XM_011510144.2			XP_011508446.1
	XM_011510145.1			XP_011508447.1
	XM_017002800.1			XP_016858289.1
	XM_017002801.1			XP_016858290.1
	AF228312.1			AAF34793.1
	AK128376.1	5	1353	BAC87407.1
	AK223325.1			BAD97045.1
	AK313946.1
	AL557555.3
	BC025703.1			AAH25703.1
	BI819937.1
	EU117371.1
	EU117372.1
	EU117373.1
	EU118788.1
	EU118789.1
	EU118790.1
	EU118791.1
	EU118792.1
	EU118793.1
	EU597245.1
	J04132.1			AAA60394.1
	X55510.1
	X55511.1
	X55512.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3890749	Chr.1:167379314 - 167446554 on Build GRCh38	Gain	CD247 POU2F1
nsv3432	Chr.1:167418866 - 167452640 on Build GRCh38	Insertion	CD247 POU2F1
nsv831814	Chr.1:167380597 - 167590974 on Build GRCh38	Loss	CD247 CREG1 POU2F1

More Information

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

Panther Classification:

Molecular Function -

defense/immunity protein, immunoglobulin receptor superfamily

Gene Ontology Categories:

Process(es)

viral process
T cell costimulation
Fc-gamma receptor signaling pathway involved in phagocytosis
regulation of defense response to virus by virus
regulation of immune response
T cell receptor signaling pathway

Function(s)

transmembrane signaling receptor activity
protein binding
identical protein binding
protein homodimerization activity