LOCUS       S79500                    57 bp    DNA     linear   HUM 14-JUL-2016
DEFINITION  COMP=524 kd cartilage oligomeric matrix protein {exon 10} [human,
            multiple epiphyseal dysplasia syndrome patient family R90-155,
            Genomic Mutant, 57 nt].
ACCESSION   S79500
VERSION     S79500.1
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 170921] from the original journal article.
COMMENT     G43 to T transversion causes Asp to Tyr.
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="AAB35270.1"
                     /translation="DNCPLVRNPDQRNTYEDKW"
BASE COUNT           16 a           18 c           18 g            5 t
ORIGIN      
        1 gacaactgcc cgctggtgcg gaacccagac cagcgcaaca cgtacgagga caagtgg
//