[Term]
id: PR:000061857
name: steroid 21-hydroxylase sequence variant G292S (human)
def: "A steroid 21-hydroxylase (human) that has a Ser residue at the position equivalent to Gly-292 of the amino acid sequence represented by UniProtKB:P08686-1. Example: UniProtKB:P08686-1, Gly-292, CHEBI:29999." [PRO:DNx, Reactome:R-HSA-5601946]
comment: Category=organism-sequence.
synonym: "hCYP21A2/var:G292S" EXACT PRO-short-label [PRO:DNx]
synonym: "CYP21A2 G292S" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5601946]
synonym: "UniProtKB:P08686, Gly-292, CHEBI:29999" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P08686-1, Gly-292, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5601946 "PR:000061857 located_in GO:0005789"
is_a: PR:P08686 ! steroid 21-hydroxylase (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens