Hs06629400_cn

• Gene Symbol: EFCAB12
• Assay Reference Genome Location: Chr.3:129407466 on build GRCh38
• Cytoband: 3q21.3

Target Gene Details

• Entrez Gene ID: 90288
• Gene Name: EF-hand calcium binding domain 12
• Gene Aliases: C3orf25
• Location: Chr.3:129401321-129428651 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EFCAB12	NM_207307.2			NP_997190.1
	XM_011513293.2			XP_011511595.1
	XM_011513294.2			XP_011511596.1
	XM_011513295.2			XP_011511597.1
	XM_011513297.2			XP_011511599.1
	XM_011513298.1			XP_011511600.1
	XM_011513299.2			XP_011511601.1
	AK096099.1
	AK127968.1
	AL133011.1			CAH10712.1
	BC066975.1			AAH66975.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2725901	Chr.3:129380821 - 129487939 on Build GRCh38	Deletion	EFCAB12 IFT122 RPL32P3 SNORA7B MBD4
esv3597741	Chr.3:129383049 - 129486193 on Build GRCh38	Loss	EFCAB12 IFT122 RPL32P3 SNORA7B MBD4
nsv591668	Chr.3:129403449 - 129490335 on Build GRCh38	Gain	EFCAB12 IFT122 MBD4
nsv591652	Chr.3:129327063 - 129408132 on Build GRCh38	Gain	EFCAB12 RPL32P3 SNORA7B
esv3597742	Chr.3:129400638 - 129408733 on Build GRCh38	Loss	EFCAB12

More Information

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

Panther Classification:

Molecular Function -

calmodulin-related

Gene Ontology Categories:

Function(s)

calcium ion binding
protein binding