[Term]
id: PR:000063024
name: Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase sequence variant R146Q (human)
def: "A Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase (human) that has a Gln residue at the position equivalent to Arg-146 of the amino acid sequence represented by UniProtKB:Q9BV10. UniProtKB:Q9BV10, Arg-146, CHEBI:30011." [PRO:DNx, Reactome:R-HSA-4722098]
comment: Category=organism-sequence.
synonym: "hALG12/var:R146Q" EXACT PRO-short-label [PRO:DNx]
synonym: "ALG12 R146Q" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-4722098]
synonym: "UniProtKB:Q9BV10, Arg-146, CHEBI:30011" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-4722098 "PR:000063024 located_in GO:0005789"
is_a: PR:Q9BV10 ! Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens