Hs03804452_cn

• Gene Symbol: MRPL23
• Assay Reference Genome Location: Chr.11:1968486 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
nsv522320	Chr.11:1835882 - 1996938 on Build GRCh38	Loss	H19 LSP1 SNORD131 MIR4298 TNNT3 TNNI2 LINC01219 MIR7847 MIR675 SYT8 HOTS MRPL23-AS1 LINC01150 MRPL23
nsv1047474	Chr.11:1803515 - 2043381 on Build GRCh38	Gain	H19 LSP1 SNORD131 MIR4298 TNNT3 TNNI2 LINC01219 MIR7847 MIR675 SYT8 HOTS MRPL23-AS1 LINC01150 MRPL23
dgv1016n100	Chr.11:1946041 - 2043381 on Build GRCh38	Gain	H19 SNORD131 LINC01219 HOTS MIR675 MRPL23-AS1 MRPL23
nsv553064	Chr.11:1943082 - 2001669 on Build GRCh38	Loss	H19 SNORD131 LINC01219 HOTS MIR675 MRPL23-AS1 MRPL23
nsv516622	Chr.11:1927731 - 1993479 on Build GRCh38	Loss	SNORD131 TNNT3 LINC01219 HOTS MRPL23-AS1 MRPL23
nsv469926	Chr.11:1813024 - 2036416 on Build GRCh38	Loss	H19 LSP1 SNORD131 MIR4298 TNNT3 TNNI2 LINC01219 MIR7847 MIR675 SYT8 HOTS MRPL23-AS1 LINC01150 MRPL23
nsv951283	Chr.11:1913571 - 2040070 on Build GRCh38	Deletion	H19 SNORD131 TNNT3 LINC01219 HOTS MIR675 MRPL23-AS1 MRPL23
esv29980	Chr.11:1820597 - 2097889 on Build GRCh38	Loss	H19 LSP1 SNORD131 MIR4298 TNNT3 TNNI2 LINC01219 MIR7847 MIR675 SYT8 HOTS MRPL23-AS1 LINC01150 MRPL23
nsv553047	Chr.11:1733170 - 2418537 on Build GRCh38	Gain	MIR4686 LSP1 CTSD CD81-AS1 TNNT3 LINC01219 MIR7847 TSPAN32 C11orf21 INS SYT8 HOTS TSSC4 TH INS-IGF2 MRPL23 TRPM5 H19 CD81 SNORD131 MIR4298 TNNI2 MIR675 ASCL2 IFITM10 MIR483 IGF2 MRPL23-AS1 IGF2-AS LINC01150

More Information

Additional Information:

For this assay, SNP(s) [rs112559131] 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