Hs03984428_cn

• Gene Symbol: MRM1
• Assay Reference Genome Location: Chr.17:36609022 on build GRCh38
• Cytoband: 17q12

Target Gene Details

• Entrez Gene ID: 79922
• Gene Name: mitochondrial rRNA methyltransferase 1
• Gene Aliases: -
• Location: Chr.17:36601581-36634698 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRM1	XM_011525275.2			XP_011523577.1
	XM_011525276.2			XP_011523578.1
	XM_017025112.1			XP_016880601.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833429	Chr.17:36605619 - 36790120 on Build GRCh38	Gain	MRM1
dgv3156n100	Chr.17:36589879 - 36646211 on Build GRCh38	Gain	MRM1 DHRS11
esv3640474	Chr.17:36564700 - 36908342 on Build GRCh38	Gain	LOC102723471 MRM1 DHRS11 GGNBP2
esv2758686	Chr.17:36588163 - 36790120 on Build GRCh38	Gain+Loss	MRM1 DHRS11 GGNBP2
esv3640475	Chr.17:36602406 - 36633068 on Build GRCh38	Gain	MRM1
nsv469760	Chr.17:36519312 - 36683773 on Build GRCh38	Loss	MYO19 MRM1 DHRS11 PIGW GGNBP2

More Information

Additional Information:

For this assay, SNP(s) [rs75008450] 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 -

RNA methyltransferase

Gene Ontology Categories:

Process(es)

enzyme-directed rRNA 2'-O-methylation

Function(s)

RNA binding
protein binding
poly(A) RNA binding
rRNA (guanosine-2'-O-)-methyltransferase activity