Hs01975942_cn

• Gene Symbol: MRPS30
• Assay Reference Genome Location: Chr.5:44815219 on build GRCh38
• Cytoband: 5p12

Target Gene Details

• Entrez Gene ID: 10884
• Gene Name: mitochondrial ribosomal protein S30
• Gene Aliases: MRP-S30, PAP, PDCD9, S30mt
• Location: Chr.5:44808925-44815514 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRPS30	NM_016640.3	5	1375	NP_057724.2
	AF146192.2	5	1375	AAF65227.1
	AF217523.1	5	1069	AAF67634.1
	AK074777.1	5	1343	BAC11202.1
	AK222704.1	5	1353	BAD96424.1
	AK222894.1			BAD96614.1
	AL136706.1	5	1348	CAB66641.1
	AL355715.1	5	1375	CAB90810.1
	AL355716.1	5	1068	CAB90811.1
	BC002460.2	5	1326	AAH02460.2
	BC007735.2	5	1352	AAH07735.1
	BU676154.1	1	312

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv830279	Chr.5:44688073 - 44860713 on Build GRCh38	Gain	MRPS30 BRCAT54
nsv462127	Chr.5:44803647 - 44834131 on Build GRCh38	Loss	MRPS30 BRCAT54
nsv1027897	Chr.5:44695176 - 45061521 on Build GRCh38	Gain	MRPS30 BRCAT54

More Information

Additional Information:

For this assay, SNP(s) [rs79210252] 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)

apoptotic process
mitochondrial translational elongation
mitochondrial translational termination

Function(s)

structural constituent of ribosome
poly(A) RNA binding