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UROS

From SNPedia
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ClinVarUROS
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# SNPs22
 Max MagnitudeChromosome positionSummary
rs1219080127125,815,061
rs1219080130125,815,120
rs1219080140125,788,983
rs1219080150125,816,490
rs1219080160125,815,034
rs1219080170125,794,978
rs1219080180125,815,035
rs1219080200125,788,993
rs1219080210125,788,923
rs289417743.5125,815,081
rs289417753.5125,815,094
rs3738648210125,816,436
rs3975153480125,816,702
rs3975153490125,816,708
rs3975153500125,816,718
rs3975153510125,816,722
rs3975155270125,816,185
rs3975155280125,812,222
rs43858010125,823,221
rs7960518590125,798,142
rs8693206690125,823,225
rs8693206700125,823,205

The UROS gene on chromosome 10 provides instructions for making an enzyme known as uroporphyrinogen III synthase. More than 35 mutations in the UROS gene have been found to cause a form of porphyria known as congenital erythropoietic porphyria.

The most common UROS gene mutation, rs121908012, found in about one-third of all cases of congenital erythropoietic porphyria, replaces the amino acid cysteine with the amino acid arginine at position 73 (written as Cys73Arg or C73R).GHR