CPOX
From SNPedia
is a | gene |
is | mentioned by |
Full name | coproporphyrinogen oxidase |
EntrezGene | 1371 |
PheGenI | 1371 |
VariationViewer | 1371 |
ClinVar | CPOX |
GeneCards | CPOX |
dbSNP | 1371 |
Diseases | CPOX |
SADR | 1371 |
HugeNav | 1371 |
wikipedia | CPOX |
CPOX | |
gopubmed | CPOX |
EVS | CPOX |
HEFalMp | CPOX |
MyGene2 | CPOX |
23andMe | CPOX |
UniProt | P36551 |
Ensembl | ENSG00000080819 |
OMIM | 612732 |
# SNPs | 13 |
Max Magnitude | Chromosome position | Summary | |
---|---|---|---|
rs121917866 | 0 | 98,585,622 | |
rs121917868 | 0 | 98,581,474 | |
rs121917870 | 0 | 98,588,783 | |
rs121917871 | 0 | 98,593,420 | |
rs121917872 | 0 | 98,591,089 | |
rs121917873 | 0 | 98,585,631 | |
rs121917874 | 0 | 98,588,831 | |
rs28929486 | 0 | 98,591,089 | |
rs28929487 | 0 | 98,585,631 | |
rs28931603 | 0 | 98,580,709 | |
rs587777271 | 0 | 98,585,633 | |
rs786205053 | 0 | 98,593,373 | |
rs786205054 | 0 | 98,592,996 |
CPOX codes for the coproporphyrinogen oxidase enzyme, the 6th needed step in making heme. There are 45 mutations in CPOX that cause porphyrias, metabolic diseases, called hereditary coproporphyria and harderoporphyria.