[Term]
id: PR:000062233
name: solute carrier family 12 member 3 sequence variant L272P (human)
def: "A solute carrier family 12 member 3 (human) that has a Pro residue at the position equivalent to Leu-272 of the amino acid sequence represented by UniProtKB:P55017-1. Example: UniProtKB:P55017-1, Leu-272, CHEBI:50342." [PRO:DNx, Reactome:R-HSA-5623751]
comment: Category=organism-sequence.
synonym: "hSLC12A3/var:L272P" EXACT PRO-short-label [PRO:DNx]
synonym: "SLC12A3 L272P" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5623751]
synonym: "UniProtKB:P55017, Leu-272, CHEBI:50342" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P55017-1, Leu-272, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5623751 "PR:000062233 located_in GO:0005886"
is_a: PR:P55017 ! solute carrier family 12 member 3 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens