Hs04523926_cn

• Gene Symbol: EFCAB2
• Assay Reference Genome Location: Chr.1:245010354 on build GRCh38
• Cytoband: 1q44

Target Gene Details

• Entrez Gene ID: 84288
• Gene Name: EF-hand calcium binding domain 2
• Gene Aliases: CFAP200, DRC8
• Location: Chr.1:244969739-245125228 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EFCAB2	NM_001143943.1			NP_001137415.1
	NM_001290327.1			NP_001277256.1
	NM_032328.3			NP_115704.1
	NR_026587.1
	XM_011544300.2			XP_011542602.1
	XM_011544301.1			XP_011542603.1
	XM_011544302.2			XP_011542604.1
	XM_017002538.1			XP_016858027.1
	XM_017002539.1			XP_016858028.1
	XM_017002540.1			XP_016858029.1
	XM_017002541.1			XP_016858030.1
	XM_017002542.1			XP_016858031.1
	XM_017002543.1			XP_016858032.1
	XM_017002545.1			XP_016858034.1
	AB209286.1			BAD92523.1
	AK001393.1
	AK090927.1
	AK302883.1
	BC005357.1			AAH05357.1
	BG546306.1
	BG701985.1
	BI838837.1
	BQ438351.1
	DB286332.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2669322	Chr.1:245009723 - 245014590 on Build GRCh38	Deletion	EFCAB2
esv3589420	Chr.1:244890996 - 245040215 on Build GRCh38	Loss	EFCAB2 LOC101928068
nsv549494	Chr.1:244991842 - 245263357 on Build GRCh38	Gain	EFCAB2 KIF26B
esv22057	Chr.1:244894679 - 245033598 on Build GRCh38	Loss	EFCAB2 LOC101928068
dgv602n100	Chr.1:244936197 - 245539982 on Build GRCh38	Gain	EFCAB2 KIF26B LOC101928068
esv3589424	Chr.1:245009741 - 245014557 on Build GRCh38	Loss	EFCAB2
nsv827664	Chr.1:245009577 - 245014759 on Build GRCh38	Loss	EFCAB2

More Information

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

Panther Classification:

Molecular Function -

cytoskeletal protein, microtubule or microtubule-binding cytoskeletal protein

Gene Ontology Categories:

Function(s)

calcium ion binding