Hs00321700_cn

• Gene Symbol: MRPL43
• Assay Reference Genome Location: Chr.10:100978316 on build GRCh38
• Cytoband: 10q24.31

Target Gene Details

• Entrez Gene ID: 84545
• Gene Name: mitochondrial ribosomal protein L43
• Gene Aliases: L43mt, MRP-L43, bMRP36a
• Location: Chr.10:100977822-100987519 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRPL43	NM_176792.2	5	1657	NP_789762.1
	AK095556.1	5	1641	BAC04572.1
	BC041165.1	5	1591	AAH41165.1

Target Gene Details

• Entrez Gene ID: 57715
• Gene Name: semaphorin 4G
• Gene Aliases: -
• Location: Chr.10:100969483-100985618 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SEMA4G	NM_001203244.1			NP_001190173.1
	NM_017893.3			NP_060363.2
	XM_005270008.2			XP_005270065.1
	AB046839.1
	AK297431.1
	BC051030.1			AAH51030.1
	BC110382.1
	BC128579.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831965	Chr.10:100916724 - 101082796 on Build GRCh38	Loss	SLF2 PDZD7 KAZALD1 MRPL43 SFXN3 LZTS2 C10orf2 MIR608 SEMA4G
nsv517698	Chr.10:100965896 - 101017113 on Build GRCh38	Loss	PDZD7 MRPL43 LZTS2 C10orf2 MIR608 SEMA4G
nsv467443	Chr.10:100929460 - 101007360 on Build GRCh38	Loss	SLF2 MRPL43 LZTS2 C10orf2 MIR608 SEMA4G
nsv552051	Chr.10:100904892 - 100984619 on Build GRCh38	Loss	SLF2 MRPL43 MIR608 SEMA4G

More Information

Additional Information:

For this assay, SNP(s) [rs74154244] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ribosomal protein, translational protein, membrane-bound signaling molecule, intercellular signal molecule

Gene Ontology Categories:

Process(es)

translation
mitochondrial translational elongation
mitochondrial translational termination
neural crest cell migration
positive regulation of cell migration
negative regulation of axon extension involved in axon guidance
negative chemotaxis
semaphorin-plexin signaling pathway

Function(s)

structural constituent of ribosome
protein binding
poly(A) RNA binding
semaphorin receptor binding
neuropilin binding
chemorepellent activity