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 //