LOCUS       S61298                    64 bp    mRNA    linear   HUM 23-JUL-1993
DEFINITION  HEXA=beta-hexosaminidase {exon 4/5} [human, fibroblasts, mRNA
            Partial Mutant, 64 nt].
ACCESSION   S61298
VERSION     S61298.1
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 64)
  AUTHORS   Akli,S., Chomel,J.C., Lacorte,J.M., Bachner,L., Kahn,A. and
            Poenaru,L.
  TITLE     Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs
            patients
  JOURNAL   Hum. Mol. Genet. 2 (1), 61-67 (1993)
   PUBMED   8490625
  REMARK    GenBank staff at the National Library of Medicine created this
            entry [NCBI gibbsq 131934] from the original journal article.
COMMENT     G to A transition at nucleotide 512.
FEATURES             Location/Qualifiers
     source          1..64
                     /db_xref="H-InvDB:HIT000215957"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     gene            1..64
                     /gene="HEXA"
                     /note="beta-hexosaminidase"
     CDS             1..64
                     /gene="HEXA"
                     /note="beta-hexosaminidase"
                     /codon_start=2
                     /protein_id="AAD13927.1"
                     /translation="GTFFINKTEIEDFPRFPHQGL"
BASE COUNT           14 a           18 c           14 g           18 t
ORIGIN      
        1 gggcacattc tttatcaaca agactgagat tgaggacttt ccccgctttc ctcaccaggg
       61 cttg
//