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 | 1069 | NP_060599.1 |
XM_005257500.3 | 7 | 1259 | XP_005257557.1 | |
XM_011524968.2 | 6 | 842 | XP_011523270.1 | |
XM_017024813.1 | 7 | 857 | XP_016880302.1 | |
AK001397.1 | 7 | 1021 | BAA91668.1 | |
AK223242.1 | 7 | 1000 | BAD96962.1 | |
AK303536.1 | 6 | 844 | ||
AK303665.1 | 6 | 892 | ||
AK303792.1 | 6 | 968 | ||
BC006525.2 | 7 | 956 | 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 | LRRC46 PNPO PRR15L LOC102724532 OSBPL7 SP2 SCRN2 MRPL10 SP6 SP2-AS1 |
More Information
Additional Information:
For this assay, SNP(s) [rs117508783] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |