Variant: rs786204721 

    present in Gene: HEXA;HEXA-AS1
    present in Chromosome: 15
    Position on Chromosome: 72375971
    Alleles of this Variant: A/G

rs786204721 in HEXA;HEXA-AS1 gene and Tay-Sachs Disease PMID 8445615 1993 Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.

PMID 11161796 2001 Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation.

PMID 16088929 2005 Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

PMID 3837850 1985 Can ACG serve as an initiation codon for protein synthesis in eucaryotic cells?