[Term]
id: PR:000062122
name: solute carrier family 40 member 1 sequence variant N144H (human)
def: "A solute carrier family 40 member 1 (human) that has a His residue at the position equivalent to Asn-144 of the amino acid sequence represented by UniProtKB:Q9NP59. UniProtKB:Q9NP59, Asn-144, CHEBI:29979." [PRO:DNx, Reactome:R-HSA-5655754]
comment: Category=organism-sequence.
synonym: "hSLC40A1/var:N144H" EXACT PRO-short-label [PRO:DNx]
synonym: "SLC40A1 N144H" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5655754]
synonym: "UniProtKB:Q9NP59, Asn-144, CHEBI:29979" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5655754 "PR:000062122 located_in GO:0005886"
is_a: PR:Q9NP59 ! solute carrier family 40 member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens