Hs07137752_cn

• Gene Symbol: TOMM40
• Assay Reference Genome Location: Chr.19:44896203 on build GRCh38
• Cytoband: 19q13.32

Target Gene Details

• Entrez Gene ID: 10452
• Gene Name: translocase of outer mitochondrial membrane 40
• Gene Aliases: C19orf1, D19S1177E, PER-EC1, PEREC1, TOM40
• Location: Chr.19:44891220-44903689 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TOMM40	NM_001128916.1			NP_001122388.1
	NM_001128917.1			NP_001122389.1
	NM_006114.2			NP_006105.1
	XM_005258411.3			XP_005258468.1
	AF043250.1			AAC82342.1
	AF316398.1			AAL46624.1
	AF316399.1			AAL46625.1
	AF316401.1			AAL46626.1
	AF316402.1			AAL46627.1
	BC001779.1			AAH01779.1
	BC006413.1			AAH06413.1
	BC012134.1			AAH12134.1
	BC017224.2			AAH17224.1
	BC047528.1			AAH47528.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv509747	Chr.19:44877936 - 44943426 on Build GRCh38	Insertion	APOE APOC4 APOC1 APOC4-APOC2 TOMM40 NECTIN2 APOC1P1

More Information

Additional Information:

For this assay, SNP(s) [rs371928862] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

protein targeting to mitochondrion
ion transport
macroautophagy
protein import into mitochondrial matrix

Function(s)

protein transmembrane transporter activity
protein channel activity
porin activity