Variant: rs1057516440

present in Gene: HACL1;BTD present in Chromosome: 3 Position on Chromosome: 15601895 Alleles of this Variant: G/A;C;T

rs1057516440 in HACL1;BTD gene and Biotinidase Deficiency PMID 15059618 2004 Identification of alternatively spliced human biotinidase mRNAs and putative localization of endogenous biotinidase.