present in Gene: TAP2
present in Chromosome: 6
Position on Chromosome: 32832332
Alleles of this Variant: C/T
rs1222208628 in
TAP2 gene and
Bare Lymphocyte Syndrome, Type I
PMID 23662797 2014 Transporter associated with antigen processing deficiency syndrome: case report of an adolescent with chronic perforated granulomatous skin lesions due to TAP2 mutation.
PMID 11529920 2001 Molecular studies and NK cell function of a new case of TAP2 homozygous human deficiency.
PMID 7517574 1994 Homozygous human TAP peptide transporter mutation in HLA class I deficiency.
PMID 12067308 2002 Asymptomatic deficiency in the peptide transporter associated to antigen processing (TAP).