Hs02877599_cn

• Gene Symbol: MRPL52
• Assay Reference Genome Location: Chr.14:22833483 on build GRCh38
• Cytoband: 14q11.2

Target Gene Details

• Entrez Gene ID: 122704
• Gene Name: mitochondrial ribosomal protein L52
• Gene Aliases: -
• Location: Chr.14:22829860-22835037 on Build GRCh38
• Assay Gene Location: Overlaps Exon 4 - Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRPL52	NM_001318870.1			NP_001305799.1
	NM_178336.2			NP_848026.1
	NM_180982.2			NP_851313.1
	NM_181304.2			NP_851821.1
	NM_181305.2			NP_851822.1
	NM_181306.2			NP_851823.1
	NM_181307.2			NP_851824.1
	XM_005267325.4			XP_005267382.1
	XM_005267328.3			XP_005267385.1
	AA282746.1
	AI380351.1
	AK000450.1
	AK292011.1
	BC068070.1			AAH68070.1
	BG714882.1
	BG716120.1
	BQ082981.1
	BU600884.1
	BX248749.1			CAD66556.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv563998	Chr.14:22414183 - 22879743 on Build GRCh38	Gain	OXA1L LOC105370399 TRDV3 DAD1 TRAJ60 TRAC LRP10 TRDV2 MMP14 MRPL52 SLC7A7 ABHD4 TRAJ17
esv3633763	Chr.14:22686795 - 22843098 on Build GRCh38	Gain	OXA1L MMP14 MRPL52 SLC7A7

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ribosomal protein, translational protein

Gene Ontology Categories:

Process(es)

translation
mitochondrial translational elongation
mitochondrial translational termination

Function(s)

structural constituent of ribosome