Hs02987022_cn

• Gene Symbol: MRPL49
• Assay Reference Genome Location: Chr.11:65127139 on build GRCh38
• Cytoband: 11q13.1

Target Gene Details

• Entrez Gene ID: 740
• Gene Name: mitochondrial ribosomal protein L49
• Gene Aliases: C11orf4, L49mt, MRP-L49, NOF, NOF1
• Location: Chr.11:65122183-65127369 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRPL49	NM_004927.3	4	1871	NP_004918.1
	NR_037567.1	4	1848
	NR_037568.1	3	1720
	AB062395.1	4	1775	BAB93482.1
	AB209160.1	2	3265	BAD92397.1
	AK123252.1	2	2302
	AK129795.1	5	1768
	AK129986.1	5	1682
	BC004378.1	4	1779	AAH04378.1
	U39400.1	4	1781	AAB18826.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv526181	Chr.11:64870569 - 65489858 on Build GRCh38	Gain	PPP2R5B CDCA5 CDC42EP2 MIR6750 NEAT1 VPS51 TM7SF2 ARL2 MIR194-2HG MRPL49 MIR6749 DPF2 FAU TMEM262 SLC22A20 SPDYC POLA2 ZNHIT2 SAC3D1 ARL2-SNX15 FRMD8 SLC25A45 TIGD3 ATG2A NAALADL1 MIR6879 MIR192 ZFPL1 MIR6751 EHD1 MIR612 BATF2 SNX15 LOC101927789 SYVN1 CAPN1 MAJIN MIR194-2 GPHA2

More Information

Additional Information:

For this assay, SNP(s) [rs114303545] 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, translational protein

Gene Ontology Categories:

Process(es)

mitochondrial translational elongation
mitochondrial translational termination

Function(s)

structural constituent of ribosome
protein binding