Product Details

Assay Reference Genome Location: Chr.17:35575538 on build GRCh38
Cytoband: 17q12
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

For this assay, SNP(s) [rs113891712] 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.

Target Gene Details

Entrez Gene ID: 5193
Gene Symbol: PEX12
Gene Name: peroxisomal biogenesis factor 12
Gene Aliases: PAF-3, PBD3A
Location: Chr.17:35574795-35578637 on build GRCh38
Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
PEX12	NM_000286.2	3	1940	NP_000277.1
	AB004546.1	3	1509	BAA31559.1
	BC031085.1	3	1844	AAH31085.1
	U91521.1	3	1871	AAC68812.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv953880	Chr17:35574482 - 35580081 on Build GRCh38	Duplication	PEX12
nsv2038	Chr17:35569617 - 35598796 on Build GRCh38	Insertion	PEX12 LOC105371743 SNORD7 AP2B1
esv3892999	Chr17:35252863 - 35925533 on Build GRCh38	Loss	LRRC37A8P RDM1 SLFN14 LOC105371933 PEX12 LOC105371743 C17orf50 HEATR9 SLFN12L CCL5 RASL10B MMP28 TAF15 SLFN13 GAS2L2 SLFN12 SLFN5 SNORD7 SLFN11 AP2B1

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