Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

TAP2

Gene name: transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
OMIM ID: 170261
Chromosome location: 6p21.32

Mutations

Disease/PhenotypeBare lymphocyte Type I
Reference transcriptNM_000544.3
DNA Changec.817C>T
A.A. Changep.Arg273Stop
Exon/Intronexon 5
Mutation Typesubstitution
Referencede la Salle H, Hanau D, Fricker D, Urlacher A, Kelly A, Salamero J, Powis SH, Donato L, Bausinger H, Laforet M, et al.Homozygous human TAP peptide transporter mutation in HLA class I deficiency.
Science. 1994 Jul 8;265(5169):237-41.