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AttributesValues
rdf:type
rdfs:label
  • ABCB1 2 Allele
rdfs:subClassOf
OMIM_Number
  • 171050
Semantic_Type
  • Gene or Genome
Preferred_Name
  • ABCB1 2 Allele
UMLS_CUI
  • C1706632
Legacy_Concept_Name
  • ABCB1-T_Allele
FULL_SYN
  • MDR1-T AlleleSYNCI
  • ABCB1, 3435C>TSYNCI
  • ABCB1 2 AllelePTNCI
  • ABCB1-T AlleleSYNCI
  • P-Glycoprotein Transporter T AlleleSYNCI
  • ABCB1: c3435C>TSYNCI
  • MDR1-TSYNCI
  • ABCB1-TSYNCI
Gene_Encodes_Product
  • ATP-Binding Cassette, Sub-Family B, Member 1
DEFINITION
  • Human ABCB1-T allele is a variant form of the human ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1) gene, located at 7q21.1, which encodes multidrug resistance protein 1. This allele exhibits a SNP (3435 C>T) in exon 26 that results in wobble. This alteration in DNA sequence decreases the in vivo catalytic activity of the protein encoded by the ABCB1-2 allele. Duodenal expression of multidrug resistance protein 1 is also significantly reduced in individuals that have a homozygous phenotype for this allele.NCI
DesignNote
  • Ethnicity Association: African American; Asian; Black African; Caucasian
code
  • C45684
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