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 | 2451 | NP_000277.1 |
AB004546.1 | 3 | 2020 | BAA31559.1 | |
AI341587.1 | 1 | 243 | ||
BC031085.1 | 3 | 2355 | AAH31085.1 | |
U91521.1 | 3 | 2382 | 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 | PEX12 LOC105371743 SNORD7 AP2B1 |
esv3892999 | Chr.17:35252863 - 35925533 on Build GRCh38 | Loss | LRRC37A8P MMP28 PEX12 LOC105371933 SLFN14 TAF15 SLFN12L SLFN13 SNORD7 RASL10B SLFN11 HEATR9 C17orf50 GAS2L2 LOC105371743 CCL5 AP2B1 RDM1 SLFN5 SLFN12 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |