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CYP21A2

From SNPedia

is agene
is mentioned by
Full namecytochrome P450, family 21, subfamily A, polypeptide 2
EntrezGene1589
PheGenI1589
VariationViewer1589
ClinVarCYP21A2
dbSNP1589
SADR1589
HugeNav1589
CYPANCcyp21a2
wikipediaCYP21A2
googleCYP21A2
gopubmedCYP21A2
EVSCYP21A2
HEFalMpCYP21A2
MyGene2CYP21A2
23andMeCYP21A2
EnsemblENSG00000231852
OMIM201910
# SNPs39
 Max MagnitudeChromosome positionSummary
I500542532,008,262Congenital adrenal hyperplasia related
I500542732,008,543Congenital adrenal hyperplasia related
I500543032,008,696Congenital adrenal hyperplasia related
I500543132,008,703Congenital adrenal hyperplasia related
I500543232,008,648Congenital adrenal hyperplasia related
I500543332,007,956Congenital adrenal hyperplasia related
I500543432,008,452Congenital adrenal hyperplasia related
I500543632,008,312Congenital adrenal hyperplasia related
I500543732,006,387Congenital adrenal hyperplasia related
rs111647200032,039,807
rs12530380032,039,810
rs151344502032,039,807
rs151344503532,040,766
rs201552310532,040,140
rs267606756032,040,186
rs267606757532,039,162
rs387906510532,039,133
rs397509367532,041,097
rs397515394032,038,452
rs397515532032,040,189
rs606231200032,040,187
rs6445532,041,006
rs6467332,039,081
rs6471532,040,110
rs6472032,040,072
rs6473032,041,127
rs64740
rs6475532,039,426
rs6476532,039,816
rs694170432,042,125
rs72552754532,040,485
rs72552756532,040,692
rs72552757532,040,871
rs72552758532,040,919
rs7755898532,040,421Q318X allele of the 21-hydroxylase gene. T is the risk allele. This represents a null allele (no function).
rs7769409532,040,535
rs786204728032,039,807
rs9378251532,038,514
rs9378252132,038,610


CYP21A2 codes for 21-hydroxylase, an enzyme that is part of producing cortisol and aldosterone [1].

There are more than 100 mutations in the CYP21A2 gene that cause 21-hydroxylase deficiency, which can cause congenital adrenal hyperplasia.