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 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| PEX12 | NM_000286.2 | 1 | 235 | NP_000277.1 |
| AK312635.1 | 1 | 148 | ||
| BC015751.1 | 1 | 150 | ||
| BC031085.1 | 1 | 139 | AAH31085.1 | |
| DA298874.1 | 1 | 242 | ||
| U91521.1 | 1 | 166 | 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 |
|
| nsv2038 | Chr.17:35569617 - 35598796 on Build GRCh38 | Insertion |
|
| esv3892999 | Chr.17:35252863 - 35925533 on Build GRCh38 | Loss |
|
More Information
Set Membership: |
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Genomic Map