Hs00671234_cn

• Gene Symbol: MCTP1
• Assay Reference Genome Location: Chr.5:94707590 on build GRCh38
• Cytoband: 5q15

Target Gene Details

• Entrez Gene ID: 79772
• Gene Name: multiple C2 and transmembrane domain containing 1
• Gene Aliases: -
• Location: Chr.5:94703690-95284575 on Build GRCh38
• Assay Gene Location: Overlaps Intron 28 - Exon 29

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MCTP1	NM_001002796.3			NP_001002796.1
	NM_001297777.1			NP_001284706.1
	NM_024717.5			NP_078993.4
	XM_005272082.4			XP_005272139.1
	XM_005272090.4			XP_005272147.1
	XM_006714692.3			XP_006714755.1
	XM_011543649.2			XP_011541951.1
	XM_011543650.2			XP_011541952.1
	XM_017009855.1			XP_016865344.1
	XM_017009856.1			XP_016865345.1
	XM_017009857.1			XP_016865346.1
	XM_017009858.1			XP_016865347.1
	XM_017009859.1			XP_016865348.1
	XM_017009860.1			XP_016865349.1
	XM_017009861.1			XP_016865350.1
	XM_017009862.1			XP_016865351.1
	XM_017009863.1			XP_016865352.1
	XM_017009864.1			XP_016865353.1
	AK025997.1			BAB15311.1
	AK057694.1			BAB71547.1
	AK058012.1
	AK091330.1			BAC03637.1
	AK097929.1
	AY656715.1			AAT73058.1
	AY656716.1			AAT73059.1
	CD632270.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv462254	Chr.5:94621232 - 94721120 on Build GRCh38	Loss	SLF1 MCTP1
esv3570255	Chr.5:94703088 - 94719414 on Build GRCh38	Loss	MCTP1

More Information

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

Gene Ontology Categories:

Process(es)

calcium-mediated signaling

Function(s)

calcium ion binding
calcium-dependent phospholipid binding