Assay Details
Target Gene Details
Entrez Gene ID: | 5193 |
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 Transcript 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 | Chr.17:35574482 - 35580081 on Build GRCh38 | Duplication | PEX12 |
nsv2038 | Chr.17:35569617 - 35598796 on Build GRCh38 | Insertion | AP2B1 PEX12 SNORD7 LOC105371743 |
esv3892999 | Chr.17:35252863 - 35925533 on Build GRCh38 | Loss | RDM1 SNORD7 HEATR9 SLFN12 CCL5 GAS2L2 SLFN13 RASL10B SLFN11 AP2B1 SLFN5 MMP28 PEX12 SLFN12L TAF15 LOC105371933 SLFN14 LRRC37A8P C17orf50 LOC105371743 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |