LOCUS S73017 36 bp mRNA linear HUM 24-JUL-2016 DEFINITION Homo sapiens neurofibromin 1 (NF1) mRNA, partial cds. ACCESSION S73017 VERSION S73017.1 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 36) AUTHORS Estivill,X., Lazaro,C., Casals,T. and Ravella,A. TITLE Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1 JOURNAL Hum. Genet. 88 (2), 185-188 (1991) PUBMED 1757093 REMARK GenBank staff at the National Library of Medicine created this entry [NCBI gibbsq 73017] from the original journal article. COMMENT C to T transition at position 1087. FEATURES Location/Qualifiers source 1..36 /db_xref="H-InvDB:HIT000216458" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" gene <1..36 /gene="NF1" CDS <1..21 /gene="NF1" /note="mutation results in premature termination in exon 4" /codon_start=1 /product="neurofibromin 1" /protein_id="AAB20699.1" /translation="HNDDAK" variation 19 /gene="NF1" /replace="c" BASE COUNT 14 a 6 c 7 g 9 t ORIGIN 1 cataatgatg atgccaaatg acaaagagtt actgct //