Assay Details
Target Gene Details
Entrez Gene ID: | 55163 |
Gene Name: | pyridoxamine 5'-phosphate oxidase |
Gene Aliases: |
HEL-S-302, PDXPO |
Location: |
Chr.17:47941523-47949308 on Build GRCh38 |
Assay Gene Location: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PNPO | NM_018129.3 | 7 | 1476 | NP_060599.1 |
XM_005257500.3 | 7 | 1666 | XP_005257557.1 | |
XM_011524968.2 | 6 | 1249 | XP_011523270.1 | |
XM_017024813.1 | 7 | 1264 | XP_016880302.1 | |
AK001397.1 | 7 | 1428 | BAA91668.1 | |
AK223242.1 | 7 | 1407 | BAD96962.1 | |
BC006525.2 | 7 | 1363 | AAH06525.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv1000014 | Chr.17:47941862 - 47952091 on Build GRCh38 | Deletion | PNPO PRR15L |
nsv518892 | Chr.17:47810585 - 47952066 on Build GRCh38 | Loss | SP2-AS1 SCRN2 PNPO PRR15L MRPL10 LOC102724532 OSBPL7 LRRC46 SP2 SP6 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |