Hs00879746_cn

• Gene Symbol: EFCAB12
• Assay Reference Genome Location: Chr.3:129401615 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 Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EFCAB12	NM_207307.2	9	1860	NP_997190.1
	XM_011513293.2	9	3934	XP_011511595.1
	XM_011513294.2	9	3932	XP_011511596.1
	XM_011513295.2	9	3890	XP_011511597.1
	XM_011513297.2	8	3782	XP_011511599.1
	XM_011513298.1	6	1365	XP_011511600.1
	XM_011513299.2	6	1559	XP_011511601.1
	AK057281.1	2	1648
	AK096099.1	6	2956
	AK127968.1	9	1845
	AL133011.1	7	5314	CAH10712.1
	BC066975.1	9	1860	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	SNORA7B RPL32P3 EFCAB12 MBD4 IFT122
esv3597741	Chr.3:129383049 - 129486193 on Build GRCh38	Loss	SNORA7B RPL32P3 EFCAB12 MBD4 IFT122
nsv591652	Chr.3:129327063 - 129408132 on Build GRCh38	Gain	SNORA7B RPL32P3 EFCAB12
esv3597742	Chr.3:129400638 - 129408733 on Build GRCh38	Loss	EFCAB12

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

calmodulin-related

Gene Ontology Categories:

Function(s)

calcium ion binding
protein binding