LOCUS       S79499                    57 bp    DNA     linear   HUM 14-JUL-2016
DEFINITION  COMP=524 kd cartilage oligomeric matrix protein {exon 10} [human,
            pseudoachondroplasia syndrome patient family R95-150, Genomic
            Mutant, 57 nt].
ACCESSION   S79499
VERSION     S79499.1
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 57)
  AUTHORS   Briggs,M.D., Hoffman,S.M., King,L.M., Olsen,A.S., Mohrenweiser,H.,
            Leroy,J.G., Mortier,G.R., Rimoin,D.L., Lachman,R.S., Gaines,E.S. et
            al.
  TITLE     Pseudoachondroplasia and multiple epiphyseal dysplasia due to
            mutations in the cartilage oligomeric matrix protein gene
  JOURNAL   Nat. Genet. 10 (3), 330-336 (1995)
   PUBMED   7670472
  REMARK    GenBank staff at the National Library of Medicine created this
            entry [NCBI gibbsq 170919] from the original journal article.
COMMENT     T7 to C transition causes Cys to Arg.
FEATURES             Location/Qualifiers
     source          1..57
                     /organism="Homo sapiens"
                     /mol_type="genomic DNA"
                     /db_xref="taxon:9606"
     gene            1..57
                     /gene="COMP"
                     /note="524 kd cartilage oligomeric matrix protein"
     CDS             1..57
                     /gene="COMP"
                     /note="524 kd cartilage oligomeric matrix protein"
                     /codon_start=1
                     /protein_id="AAB35269.1"
                     /translation="DNRPLVRNPDQRNTDEDKW"
BASE COUNT           16 a           19 c           19 g            3 t
ORIGIN      
        1 gacaaccgcc cgctggtgcg gaacccagac cagcgcaaca cggacgagga caagtgg
//