[Term]
id: PR:000064376
name: solute carrier family 12 member 1 sequence variant D648N (human)
def: "A solute carrier family 12 member 1 (human) that has an Asn residue at the position equivalent to Asp-648 of the amino acid sequence represented by UniProtKB:Q13621-1. Example: UniProtKB:Q13621-1, Asp-648, CHEBI:50347." [PRO:DNx, Reactome:R-HSA-5623595]
comment: Category=organism-sequence.
synonym: "hSLC12A1/var:D648N" EXACT PRO-short-label [PRO:DNx]
synonym: "SLC12A1 D648N" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5623595]
synonym: "UniProtKB:Q13621, Asp-648, CHEBI:50347" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q13621-1, Asp-648, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5623595 "PR:000064376 located_in GO:0005886"
is_a: PR:Q13621 ! solute carrier family 12 member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens