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 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PNPO | NM_018129.3 | 1 | 234 | NP_060599.1 |
XM_005257500.3 | 1 | 186 | XP_005257557.1 | |
XM_011524968.2 | 1 | 132 | XP_011523270.1 | |
XM_017024813.1 | XP_016880302.1 | |||
AF468030.1 | 1 | 81 | AAM76918.1 | |
AK001397.1 | 1 | 186 | BAA91668.1 | |
AK223242.1 | 1 | 165 | BAD96962.1 | |
AK303536.1 | 1 | 134 | ||
AK303665.1 | 1 | 186 | ||
AK303792.1 | 1 | 187 | ||
BC006525.2 | 1 | 121 | AAH06525.1 | |
DA186382.1 | 1 | 206 | ||
DB228906.1 | 1 | 234 | ||
FJ224333.1 | 1 | 81 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv518892 | Chr.17:47810585 - 47952066 on Build GRCh38 | Loss | LOC102724532 OSBPL7 LRRC46 SCRN2 PNPO SP2-AS1 SP2 MRPL10 SP6 PRR15L |
nsv2072 | Chr.17:47921271 - 47942260 on Build GRCh38 | Deletion | PNPO SP2-AS1 SP2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |