Hs03780117_cn

• Gene Symbol: MRPL23
• Assay Reference Genome Location: Chr.11:1963591 on build GRCh38
• Cytoband: 11p15.5

Target Gene Details

• Entrez Gene ID: 6150
• Gene Name: mitochondrial ribosomal protein L23
• Gene Aliases: L23MRP, RPL23, RPL23L
• Location: Chr.11:1947272-2013176 on Build GRCh38
• Assay Gene Location: Within Intron 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRPL23	XM_011520276.2			XP_011518578.1
	AK128774.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1047474	Chr.11:1803515 - 2043381 on Build GRCh38	Gain	MRPL23 MRPL23-AS1 SYT8 TNNT3 MIR675 MIR4298 HOTS TNNI2 MIR7847 H19 SNORD131 LINC01219 LSP1 LINC01150
nsv522320	Chr.11:1835882 - 1996938 on Build GRCh38	Loss	MRPL23 MRPL23-AS1 SYT8 TNNT3 MIR675 MIR4298 HOTS TNNI2 MIR7847 H19 SNORD131 LINC01219 LSP1 LINC01150
dgv1015n100	Chr.11:1946041 - 2008048 on Build GRCh38	Gain	MRPL23 MRPL23-AS1 H19 SNORD131 MIR675 LINC01219 HOTS
nsv516622	Chr.11:1927731 - 1993479 on Build GRCh38	Loss	MRPL23 MRPL23-AS1 TNNT3 SNORD131 LINC01219 HOTS
nsv553064	Chr.11:1943082 - 2001669 on Build GRCh38	Loss	MRPL23 MRPL23-AS1 H19 SNORD131 MIR675 LINC01219 HOTS
nsv469926	Chr.11:1813024 - 2036416 on Build GRCh38	Loss	MRPL23 MRPL23-AS1 SYT8 TNNT3 MIR675 MIR4298 HOTS TNNI2 MIR7847 H19 SNORD131 LINC01219 LSP1 LINC01150
nsv951283	Chr.11:1913571 - 2040070 on Build GRCh38	Deletion	MRPL23 MRPL23-AS1 H19 TNNT3 SNORD131 MIR675 LINC01219 HOTS
esv29980	Chr.11:1820597 - 2097889 on Build GRCh38	Loss	MRPL23 MRPL23-AS1 SYT8 TNNT3 MIR675 MIR4298 HOTS TNNI2 MIR7847 H19 SNORD131 LINC01219 LSP1 LINC01150
nsv467645	Chr.11:1733170 - 2418537 on Build GRCh38	Gain	MRPL23-AS1 INS-IGF2 MIR4686 SYT8 ASCL2 TSPAN32 MIR4298 HOTS INS TNNI2 CTSD MIR483 C11orf21 SNORD131 LSP1 CD81 LINC01150 MRPL23 CD81-AS1 TNNT3 MIR675 IGF2 TRPM5 IFITM10 TSSC4 IGF2-AS TH MIR7847 H19 LINC01219

More Information

Additional Information:

For this assay, SNP(s) [rs148426265] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ribosomal protein

Gene Ontology Categories:

Process(es)

translation
mitochondrial translation
mitochondrial translational elongation
mitochondrial translational termination

Function(s)

nucleotide binding
RNA binding
structural constituent of ribosome
protein binding