LOCUS       AY259116                1506 bp    DNA     linear   HUM 25-JUL-2016
DEFINITION  Homo sapiens calcium sensing receptor (CASR) gene, CASR-A allele,
            exon 7 and partial cds.
ACCESSION   AY259116
VERSION     AY259116.1
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 1506)
  AUTHORS   Uckun-Kitapci,A., Underwood,L.E., Zhang,J. and Moats-Staats,B.
  TITLE     A novel mutation (E767K) in the second extracellular loop of the
            calcium sensing receptor in a family with autosomal dominant
            hypocalcemia
  JOURNAL   Am. J. Med. Genet. A 132A (2), 125-129 (2005)
   PUBMED   15551332
REFERENCE   2  (bases 1 to 1506)
  AUTHORS   Uckun-Kitapci,A., Moats-Staats,B.M., Zhang,J. and Underwood,L.E.
  TITLE     Direct Submission
  JOURNAL   Submitted (20-MAR-2003) Pediatrics, University of North Carolina,
            CB#7039 Biomolecular Sciences Building, Chapel Hill, NC 27599, USA
FEATURES             Location/Qualifiers
     source          1..1506
                     /db_xref="H-InvDB:HIT000385978"
                     /organism="Homo sapiens"
                     /mol_type="genomic DNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.3-q21"
     gene            <1..>1506
                     /gene="CASR"
                     /allele="A"
     mRNA            <1..>1506
                     /gene="CASR"
                     /allele="A"
                     /product="calcium sensing receptor"
     CDS             <1..1506
                     /gene="CASR"
                     /allele="A"
                     /codon_start=1
                     /product="calcium sensing receptor"
                     /protein_id="AAP20759.1"
                     /translation="DASACNKCPDDFWSNENHTSCIAKEIEFLSWTEPFGIALTLFAV
                     LGIFLTAFVLGVFIKFRNTPIVKATNRELSYLLLFSLLCCFSSSLFFIGEPQDWTCRL
                     RQPAFGISFVLCISCILVKTNRVLLVFEAKIPTSFHRKWWGLNLQFLLVFLCTFMQIV
                     ICVIWLYTAPPSSYRNQELEDEIIFITCHKGSLMALGFLIGYTCLLAAICFFFAFKSR
                     KLPENFNEAKFITFSMLIFFIVWISFIPAYASTYGKFVSAVEVIAILAASFGLLACIF
                     FNKIYIILFKPSRNTIEEVRCSTAAHAFKVAARATLRRSNVSRKRSSSLGGSTGSTPS
                     SSISSKSNSEDPFPQPERQKQQQPLALTQQEQQQQPLTLPQQQRSQQQPRCKQKVIFG
                     SGTVTFSLSFDEPQKNAMAHRNSTHQNSLEAQKSSDTLTRHQPLLPLQCGETDLDLTV
                     QETGLQGPVGGDQRPEVEDPEELSPALVVSSSQSFVISGGGSTVTENVVNS"
     exon            <1..>1506
                     /gene="CASR"
                     /allele="A"
                     /number=7
BASE COUNT          314 a          495 c          370 g          327 t
ORIGIN      
        1 gatgccagtg cctgtaacaa gtgcccagat gacttctggt ccaatgagaa ccacacctcc
       61 tgcattgcca aggagatcga gtttctgtcg tggacggagc cctttgggat cgcactcacc
      121 ctctttgccg tgctgggcat tttcctgaca gcctttgtgc tgggtgtgtt tatcaagttc
      181 cgcaacacac ccattgtcaa ggccaccaac cgagagctct cctacctcct cctcttctcc
      241 ctgctctgct gcttctccag ctccctgttc ttcatcgggg agccccagga ctggacgtgc
      301 cgcctgcgcc agccggcctt tggcatcagc ttcgtgctct gcatctcatg catcctggtg
      361 aaaaccaacc gtgtcctcct ggtgtttgag gccaagatcc ccaccagctt ccaccgcaag
      421 tggtgggggc tcaacctgca gttcctgctg gttttcctct gcaccttcat gcagattgtc
      481 atctgtgtga tctggctcta caccgcgccc ccctcaagct accgcaacca ggagctggag
      541 gatgagatca tcttcatcac gtgccacaag ggctccctca tggccctggg cttcctgatc
      601 ggctacacct gcctgctggc tgccatctgc ttcttctttg ccttcaagtc ccggaagctg
      661 ccggagaact tcaatgaagc caagttcatc accttcagca tgctcatctt cttcatcgtc
      721 tggatctcct tcattccagc ctatgccagc acctatggca agtttgtctc tgccgtagag
      781 gtgattgcca tcctggcagc cagctttggc ttgctggcgt gcatcttctt caacaagatc
      841 tacatcattc tcttcaagcc atcccgcaac accatcgagg aggtgcgttg cagcaccgca
      901 gctcacgctt tcaaggtggc tgcccgggcc acgctgcgcc gcagcaacgt ctcccgcaag
      961 cggtccagca gccttggagg ctccacggga tccaccccct cctcctccat cagcagcaag
     1021 agcaacagcg aagacccatt cccacagccc gagaggcaga agcagcagca gccgctggcc
     1081 ctaacccagc aagagcagca gcagcagccc ctgaccctcc cacagcagca acgatctcag
     1141 cagcagccca gatgcaagca gaaggtcatc tttggcagcg gcacggtcac cttctcactg
     1201 agctttgatg agcctcagaa gaacgccatg gcccacagga attctacgca ccagaactcc
     1261 ctggaggccc agaaaagcag cgatacgctg acccgacacc agccattact cccgctgcag
     1321 tgcggggaaa cggacttaga tctgaccgtc caggaaacag gtctgcaagg acctgtgggt
     1381 ggagaccagc ggccagaggt ggaggaccct gaagagttgt ccccagcact tgtagtgtcc
     1441 agttcacaga gctttgtcat cagtggtgga ggcagcactg ttacagaaaa cgtagtgaat
     1501 tcataa
//