Hs06924151_cn

• Gene Symbol: TMC1
• Assay Reference Genome Location: Chr.9:72526208 on build GRCh38
• Cytoband: 9q21.13

Target Gene Details

• Entrez Gene ID: 117531
• Gene Name: transmembrane channel like 1
• Gene Aliases: DFNA36, DFNB11, DFNB7
• Location: Chr.9:72521801-72836351 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMC1	NM_138691.2			NP_619636.2
	AF417578.1			AAL86399.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3891682	Chr.9:72431648 - 72637305 on Build GRCh38	Loss	TMC1
nsv614611	Chr.9:72406935 - 72532633 on Build GRCh38	Loss	TMC1
nsv831619	Chr.9:72473018 - 72640449 on Build GRCh38	Loss	TMC1
nsv1048501	Chr.9:72481579 - 72861027 on Build GRCh38	Loss	TMC1
esv3620640	Chr.9:72525463 - 72563122 on Build GRCh38	Loss	TMC1

More Information

Additional Information:

For this assay, SNP(s) [rs139056450] 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

Gene Ontology Categories:

Process(es)

detection of mechanical stimulus involved in sensory perception of sound
vestibular reflex
auditory receptor cell development
calcium ion transmembrane transport

Function(s)

voltage-gated calcium channel activity