Haplotypes of the ube3a gene

摘要

Novel genetic variants of the Ubiquitin Protein Ligase E3A (Human Papilloma Virus E6-Associated Protein) (UBE3A) gene are described. Various genotypes, haplotypes, and haplotype pairs that exist in the general United States population are disclosed for the UBE3A gene. Compositions and methods for haplotyping and/or genotyping the UBE3A gene in an individual are also disclosed. Polynucleotides defined by the sequence of the haplotypes disclosed herein are also described.