LOCUS S76982 80 bp mRNA linear HUM 27-JUL-1995 DEFINITION HEXA {HEXAdeltass mutation, exon 11} [human, Tay-Sachs disease patient, mRNA Partial Mutant, 80 nt]. ACCESSION S76982 VERSION S76982.1 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 80) AUTHORS Boles,D.J. and Proia,R.L. TITLE The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation JOURNAL Am. J. Hum. Genet. 56 (3), 716-724 (1995) PUBMED 7887427 REMARK GenBank staff at the National Library of Medicine created this entry [NCBI gibbsq 164180] from the original journal article. FEATURES Location/Qualifiers source 1..80 /db_xref="H-InvDB:HIT000216703" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" gene 1..80 /gene="HEXA" CDS 1..76 /gene="HEXA" /note="Unknown" /codon_start=1 /protein_id="AAD14242.1" /translation="PWYLNRISYGPDWKDFYVVEPLAFE" BASE COUNT 18 a 21 c 20 g 21 t ORIGIN 1 ccctggtacc tgaaccgtat atcctatggc cctgactgga aggatttcta cgtagtggaa 61 cccctggcat ttgaagctga //