Hs04915938_cn

• Gene Symbol: MTO1
• Assay Reference Genome Location: Chr.6:73478470 on build GRCh38
• Cytoband: 6q13

Target Gene Details

• Entrez Gene ID: 25821
• Gene Name: mitochondrial tRNA translation optimization 1
• Gene Aliases: CGI-02, COXPD10
• Location: Chr.6:73461727-73501456 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MTO1	NM_001123226.1			NP_001116698.1
	NM_012123.3			NP_036255.2
	NM_133645.2			NP_598400.1
	XM_006715444.2			XP_006715507.1
	XM_006715445.2			XP_006715508.1
	XM_006715446.3			XP_006715509.1
	XM_011535723.1			XP_011534025.1
	XM_011535724.1			XP_011534026.1
	XM_011535725.2			XP_011534027.1
	XM_017010697.1			XP_016866186.1
	XM_017010698.1			XP_016866187.1
	XM_017010699.1			XP_016866188.1
	XM_017010700.1			XP_016866189.1
	AF132937.1			AAD27712.1
	AF319422.2			AAG42814.3
	AF469110.1			AAL82394.1
	AF469111.1			AAL82395.1
	AJ420530.1
	AK074625.1
	AK225828.1
	AL833823.1			CAD38685.1
	AY078985.1			AAL85490.1
	AY078986.1			AAL85491.1
	BC005808.2			AAH05808.2
	BC011051.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3576177	Chr.6:73460675 - 73492915 on Build GRCh38	Gain	MTO1
nsv830693	Chr.6:73339619 - 73506357 on Build GRCh38	Loss	OOEP DDX43 MB21D1 DPPA5 OOEP-AS1 KHDC3L MTO1
esv2676283	Chr.6:73478044 - 73479348 on Build GRCh38	Deletion	MTO1
esv3609511	Chr.6:73477993 - 73479278 on Build GRCh38	Loss	MTO1

More Information

Additional Information:

For this assay, SNP(s) [rs72960044] 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)

tRNA methylation
oxidation-reduction process
mitochondrial tRNA wobble uridine modification

Function(s)

oxidoreductase activity
poly(A) RNA binding
flavin adenine dinucleotide binding