Hs02049762_cn

• Gene Symbol: MRPL52
• Assay Reference Genome Location: Chr.14:22834989 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: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRPL52	NM_001318870.1	5	1074	NP_001305799.1
	NM_178336.2	5	1070	NP_848026.1
	NM_180982.2	5	1067	NP_851313.1
	NM_181304.2	5	1253	NP_851821.1
	NM_181305.2	4	1179	NP_851822.1
	NM_181306.2	5	1078	NP_851823.1
	NM_181307.2	4	1005	NP_851824.1
	AA282747.1	1	54
	BX248749.1	5	1052	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	DAD1 ABHD4 LRP10 TRAJ60 SLC7A7 TRAJ17 TRDV3 OXA1L LOC105370399 TRAC TRDV2 MMP14 MRPL52
esv3633763	Chr.14:22686795 - 22843098 on Build GRCh38	Gain	OXA1L SLC7A7 MMP14 MRPL52

More Information

• Set Membership: Intragenic, 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