Product Details

Assay Reference Genome
Location

Chr.17:35575407 on build GRCh38
Cytoband
17q12
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

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 2071 NP_000277.1
AB004546.1 3 1640 BAA31559.1
BC031085.1 3 1975 AAH31085.1
U91521.1 3 2002 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 SNORD7 AP2B1 LOC105371743 PEX12
esv3892999 Chr17:35252863 - 35925533 on Build GRCh38 Loss SLFN13 MMP28 HEATR9 SLFN11 AP2B1 GAS2L2 RDM1 C17orf50 SLFN14 LRRC37A8P CCL5 SLFN12 SLFN12L SNORD7 LOC105371933 RASL10B TAF15 SLFN5 LOC105371743 PEX12

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