Variant: rs118203916 

    present in Gene: TAT-AS1;TAT
    present in Chromosome: 16
    Position on Chromosome: 71568260
    Alleles of this Variant: G/A

rs118203916 in TAT-AS1;TAT gene and Tyrosine Transaminase Deficiency Disease PMID 1357662 1992 Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.

PMID 16917729 2006 TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.