Hs01991353_cn

• Gene Symbol: REP15
• Assay Reference Genome Location: Chr.12:27696555 on build GRCh38
• Cytoband: 12p11.22

Target Gene Details

• Entrez Gene ID: 387849
• Gene Name: RAB15 effector protein
• Gene Aliases: RAB15EP
• Location: Chr.12:27696495-27697633 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
REP15	NM_001029874.1			NP_001025045.1
	AY662682.1			AAT76304.1
	BC140921.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832358	Chr.12:27519016 - 27705439 on Build GRCh38	Gain	REP15 PPFIBP1
esv2745664	Chr.12:27017516 - 27820117 on Build GRCh38	Deletion	SMCO2 ARNTL2 STK38L REP15 KLHL42 ARNTL2-AS1 C12orf71 MED21 MANSC4 MRPS35 PPFIBP1
nsv469178	Chr.12:27695850 - 27762012 on Build GRCh38	Gain	REP15 MRPS35

More Information

Additional Information:

For this assay, SNP(s) [rs74074227,rs74074228] 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, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

receptor recycling
positive regulation of defense response to virus by host
transferrin transport
mitophagy in response to mitochondrial depolarization
xenophagy

Function(s)

protein binding