Hs02494382_cn

• Gene Symbol: POMP
• Assay Reference Genome Location: Chr.13:28678682 on build GRCh38
• Cytoband: 13q12.3

Target Gene Details

• Entrez Gene ID: 51371
• Gene Name: proteasome maturation protein
• Gene Aliases: C13orf12, HSPC014, PNAS-110, UMP1
• Location: Chr.13:28659004-28678957 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POMP	NM_015932.5	6	1187	NP_057016.1
	BC003390.1	6	1050	AAH03390.1
	BC014334.1	6	1081	AAH14334.1
	CD369437.1	1	291

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832571	Chr.13:28675794 - 28845425 on Build GRCh38	Loss	POMP MTUS2 LOC105370138 SLC46A3

More Information

Additional Information:

For this assay, SNP(s) [rs77143820] 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 -

chaperone

Gene Ontology Categories:

Process(es)

proteasome assembly

Function(s)

protein binding