Hs01762555_cn

• Gene Symbol: MRPL48
• Assay Reference Genome Location: Chr.11:73808379 on build GRCh38
• Cytoband: 11q13.4

Target Gene Details

• Entrez Gene ID: 51642
• Gene Name: mitochondrial ribosomal protein L48
• Gene Aliases: CGI-118, HSPC290, L48MT, MRP-L48
• Location: Chr.11:73787872-73864611 on Build GRCh38
• Assay Gene Location: Overlaps Exon 5 - Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRPL48	NM_001318498.1			NP_001305427.1
	NM_001318499.1			NP_001305428.1
	NM_001318500.1			NP_001305429.1
	NM_016055.5			NP_057139.1
	NR_134658.1
	NR_134659.1
	NR_134660.1
	NR_134661.1
	XM_017017919.1			XP_016873408.1
	AF151876.1			AAD34113.1
	AF161408.1			AAF28968.1
	AK297746.1
	AK309219.1
	AK310005.1
	BC009764.1			AAH09764.1
	BI549412.1
	BM817807.1
	BM828996.1
	BP210564.1
	BU600573.1
	BU932890.1
	BX354271.2
	CF541319.1
	DA549653.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv509430	Chr.11:73794575 - 73860940 on Build GRCh38	Insertion	MRPL48
nsv391	Chr.11:73797814 - 73832998 on Build GRCh38	Insertion	MRPL48
nsv1045149	Chr.11:73603520 - 73870863 on Build GRCh38	Gain	PLEKHB1 MRPL48 COA4 RAB6A

More Information

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

Panther Classification:

Molecular Function -

ribosomal protein, translational protein

Gene Ontology Categories:

Process(es)

mitochondrial translational elongation
mitochondrial translational termination

Function(s)

protein binding