[Term]
id: PR:000062587
name: solute carrier family 12 member 1 sequence variant G278F (human)
def: "A solute carrier family 12 member 1 (human) that has a Phe residue at the position equivalent to Gly-278 of the amino acid sequence represented by UniProtKB:Q13621-1. Example: UniProtKB:Q13621-1, Gly-278, CHEBI:29997." [PRO:DNx, Reactome:R-HSA-5623585]
comment: Category=organism-sequence.
synonym: "hSLC12A1/var:G278F" EXACT PRO-short-label [PRO:DNx]
synonym: "SLC12A1 V278F" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5623585]
synonym: "UniProtKB:Q13621, Gly-278, CHEBI:29997" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q13621-1, Gly-278, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5623585 "PR:000062587 located_in GO:0005886"
is_a: PR:Q13621 ! solute carrier family 12 member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens