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 AP2B1 PEX12 LOC105371743 SNORD7
esv3892999 Chr17:35252863 - 35925533 on Build GRCh38 Loss CCL5 LOC105371933 SLFN12L HEATR9 LRRC37A8P C17orf50 PEX12 SLFN11 SLFN5 RASL10B AP2B1 SLFN14 SLFN13 RDM1 MMP28 LOC105371743 TAF15 SNORD7 GAS2L2 SLFN12

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