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 //