Hs05715280_cn

• Gene Symbol: EPB41
• Assay Reference Genome Location: Chr.1:28897167 on build GRCh38
• Cytoband: 1p35.3

Target Gene Details

• Entrez Gene ID: 2035
• Gene Name: erythrocyte membrane protein band 4.1
• Gene Aliases: 4.1R, EL1, HE
• Location: Chr.1:28887091-29120046 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EPB41	NM_001166005.1			NP_001159477.1
	NM_001166007.1			NP_001159479.1
	NM_004437.3			NP_004428.1
	NM_203342.2			NP_976217.1
	NM_203343.2			NP_976218.1
	XM_011540964.1			XP_011539266.1
	XM_017000584.1			XP_016856073.1
	XM_017000585.1			XP_016856074.1
	XM_017000593.1			XP_016856082.1
	XM_017000594.1			XP_016856083.1
	XM_017000595.1			XP_016856084.1
	XM_017000596.1			XP_016856085.1
	XM_017000597.1			XP_016856086.1
	XM_017000598.1			XP_016856087.1
	XM_017000599.1			XP_016856088.1
	XM_017000600.1			XP_016856089.1
	XM_017000601.1			XP_016856090.1
	XM_017000602.1			XP_016856091.1
	XM_017000603.1			XP_016856092.1
	XM_017000604.1			XP_016856093.1
	AB209649.1			BAD92886.1
	BM465039.1
	J03796.1			AAA35793.1
	M14993.1			AAA35795.1
	M61733.1			AAA35797.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1121709	Chr.1:28878840 - 28908858 on Build GRCh38	Deletion	EPB41

More Information

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

Gene Ontology Categories:

Process(es)

blood circulation
actin cytoskeleton organization
cortical actin cytoskeleton organization
positive regulation of protein binding

Function(s)

actin binding
structural constituent of cytoskeleton
protein binding
calmodulin binding
1-phosphatidylinositol binding
spectrin binding