Hs04015930_cn

• Gene Symbol: TIMM13
• Assay Reference Genome Location: Chr.19:2426578 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 26517
• Gene Name: translocase of inner mitochondrial membrane 13
• Gene Aliases: TIM13, TIM13B, TIMM13A, TIMM13B, ppv1
• Location: Chr.19:2425624-2427916 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TIMM13	NM_012458.3	3	1041	NP_036590.1
	AF144700.1			AAD39951.1
	AK024764.1	3	676
	AL520160.3	1	916
	BC008607.1			AAH08607.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1160562	Chr.19:2328434 - 2460264 on Build GRCh38	Deletion	LSM7 LOC101928602 LMNB2 MIR7108 SPPL2B TMPRSS9 TIMM13
nsv1064930	Chr.19:2380093 - 2592252 on Build GRCh38	Gain	LOC101928602 LOC101929097 LMNB2 GADD45B MIR7108 TMPRSS9 TIMM13 GNG7
nsv953944	Chr.19:2283702 - 2525802 on Build GRCh38	Deletion	LSM7 LOC101928602 LOC101929097 LMNB2 GADD45B LINGO3 MIR7108 SPPL2B TMPRSS9 TIMM13 GNG7

More Information

Additional Information:

For this assay, SNP(s) [rs116645038,rs143001539] 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, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

protein targeting to mitochondrion
sensory perception of sound
chaperone-mediated protein transport

Function(s)

zinc ion binding