Hs02058412_cn

• Gene Symbol: MRPL2
• Assay Reference Genome Location: Chr.6:43059475 on build GRCh38
• Cytoband: 6p21.1

Target Gene Details

• Entrez Gene ID: 51069
• Gene Name: mitochondrial ribosomal protein L2
• Gene Aliases: CGI-22, MRP-L14, RPML14
• Location: Chr.6:43054029-43059863 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRPL2	NM_001300848.1	1	71	NP_001287777.1
	NM_015950.4	1	71	NP_057034.2
	XM_005249161.4			XP_005249218.1
	HY043564.1	1	71

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv602992	Chr.6:42948182 - 43110718 on Build GRCh38	Loss	GNMT PTK7 RRP36 PEX6 CNPY3-GNMT MRPL2 MEA1 PPP2R5D KLC4 KLHDC3 CUL7
nsv1017398	Chr.6:42659705 - 43400998 on Build GRCh38	Gain	PTK7 SRF PPP2R5D KLC4 RPL7L1 CRIP3 GLTSCR1L GNMT RRP36 MRPL2 DNPH1 TBCC SLC22A7 KLHDC3 CNPY3 CUL7 PTCRA PEX6 CNPY3-GNMT MEA1 ATP6V0CP3 ZNF318 TTBK1 C6orf226 LOC401261 CUL9 PRPH2 UBR2
dgv10640n54	Chr.6:43002769 - 43128461 on Build GRCh38	Loss	PTK7 RRP36 MRPL2 MEA1 PPP2R5D KLC4 KLHDC3 CUL7

More Information

Additional Information:

For this assay, SNP(s) [rs201373372,rs77308303] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ribosomal protein

Gene Ontology Categories:

Process(es)

cytoplasmic translation
mitochondrial translation
mitochondrial translational elongation
mitochondrial translational termination

Function(s)

structural constituent of ribosome
transferase activity
poly(A) RNA binding