Hs01604453_cn

• Gene Symbol: MRM1
• Assay Reference Genome Location: Chr.17:36601936 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 Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRM1	NM_024864.4	1	341	NP_079140.2
	XM_005257694.4	1	356	XP_005257751.1
	XM_011525275.2	1	356	XP_011523577.1
	XM_011525276.2	1	356	XP_011523578.1
	XM_017025112.1	1	356	XP_016880601.1
	AK026231.1			BAB15401.1
	AK225449.1
	AK292307.1	1	347
	BC072411.1	1	281	AAH72411.1
	CB137408.1	1	342

Target Copy Number Variation Details

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

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

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA metabolism protein, RNA methyltransferase, nucleic acid metabolism protein

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