Hs02398900_cn

• Gene Symbol: MRPL44
• Assay Reference Genome Location: Chr.2:223967023 on build GRCh38
• Cytoband: 2q36.1

Target Gene Details

• Entrez Gene ID: 65080
• Gene Name: mitochondrial ribosomal protein L44
• Gene Aliases: COXPD16, L44MT, MRP-L44
• Location: Chr.2:223943224-223967714 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRPL44	NM_022915.3	4	1057	NP_075066.1
	XM_011511668.2	4	1028	XP_011509970.1
	XM_017004730.1	4	1224	XP_016860219.1
	XM_017004731.1	4	1993	XP_016860220.1
	AK022763.1	4	1006	BAB14234.1
	AK024052.1	4	999	BAB14802.1
	BC012058.1	4	1003	AAH12058.1
	CR457293.1			CAG33574.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv511173	Chr.2:223964259 - 223970652 on Build GRCh38	Loss	MRPL44

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

endoribonuclease

Gene Ontology Categories:

Process(es)

production of siRNA involved in RNA interference
primary miRNA processing
pre-miRNA processing
mitochondrial translational elongation
mitochondrial translational termination
RNA phosphodiester bond hydrolysis, endonucleolytic

Function(s)

double-stranded RNA binding
ribonuclease III activity
protein binding
poly(A) RNA binding