Chromosome - 3 SNP - rs13078881 Gene Name - BTD

Basic Information

Genotype Frequency
  • GG
  • CG
Allele Frequency
  • G
  • C

SNP Expression Description

General SNP Description

This SNP is associated with profound Biotinidase Deficiency. The function of this gene plays a role in catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation. Diseases associated with this gene include the following: Biotinidase Deficiency, Multiple Carboxylase Deficiency, Holocarboxylase Synthetase Deficiency, Maple Syrup Urine Disease, Phenylketonurias, Aciduria Organic, Galactosemias, Congenital Hypothyroidism, Homocystinuria and Adrenal Hyperplasia Congenital.

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