[Term]
id: PR:000061002
name: solute carrier family 12 member 1 sequence variant G319R (human)
def: "A solute carrier family 12 member 1 (human) that has an Arg residue at the position equivalent to Gly-319 of the amino acid sequence represented by UniProtKB:Q13621-1. Example: UniProtKB:Q13621-1, Gly-319, CHEBI:29952." [PRO:DNx, Reactome:R-HSA-5623607]
comment: Category=organism-sequence.
synonym: "hSLC12A1/var:G319R" EXACT PRO-short-label [PRO:DNx]
synonym: "SLC12A1 G319R" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5623607]
synonym: "UniProtKB:Q13621, Gly-319, CHEBI:29952" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q13621-1, Gly-319, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5623607 "PR:000061002 located_in GO:0005886"
is_a: PR:Q13621 ! solute carrier family 12 member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens