TAP2
Gene name: transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)OMIM ID: 170261
Chromosome location: 6p21.32
Mutations
| Disease/Phenotype | Bare lymphocyte Type I |
|---|---|
| Reference transcript | NM_000544.3 |
| DNA Change | c.817C>T |
| A.A. Change | p.Arg273Stop |
| Exon/Intron | exon 5 |
| Mutation Type | substitution |
| Reference | de 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. |