[Term]
id: PR:000063821
name: solute carrier family 12 member 3 sequence variant T392I (human)
def: "A solute carrier family 12 member 3 (human) that has an Ile residue at the position equivalent to Thr-392 of the amino acid sequence represented by UniProtKB:P55017-1. Example: UniProtKB:P55017-1, Thr-392, CHEBI:30009." [PRO:DNx, Reactome:R-HSA-5623689]
comment: Category=organism-sequence.
synonym: "hSLC12A3/var:T392I" EXACT PRO-short-label [PRO:DNx]
synonym: "SLC12A3 T392I" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5623689]
synonym: "UniProtKB:P55017, Thr-392, CHEBI:30009" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P55017-1, Thr-392, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5623689 "PR:000063821 located_in GO:0005886"
is_a: PR:P55017 ! solute carrier family 12 member 3 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens