LOCUS       FJ373045                1009 bp    mRNA    linear   HUM 01-JAN-2011
DEFINITION  Homo sapiens FAS variant (FAS) mRNA, complete cds.
ACCESSION   FJ373045
VERSION     FJ373045.1
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 1009)
  AUTHORS   Bernardo,I. and Allende,L.M.
  TITLE     Autoimmune lymphoproliferative syndrome due to a guanine
            duplication in exon 9 of FAS gene
  JOURNAL   Unpublished
REFERENCE   2  (bases 1 to 1009)
  AUTHORS   Bernardo,I. and Allende,L.M.
  TITLE     Direct Submission
  JOURNAL   Submitted (08-OCT-2008) Immunolgy, Hospital 12 de Octubre, Avenida
            de Cordoba s/n, Madrid, Madrid 28041, Spain
FEATURES             Location/Qualifiers
     source          1..1009
                     /db_xref="H-InvDB:HIT000645695"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.1"
                     /PCR_primers="fwd_seq: cccgctcagtacggagttgg, rev_seq:
                     ccaagcagtatttacagccagc"
     gene            1..1009
                     /gene="FAS"
     CDS             1..768
                     /gene="FAS"
                     /note="943dupG; TNF receptor superfamily member 6 variant"
                     /codon_start=1
                     /product="FAS variant"
                     /protein_id="ACP28876.1"
                     /translation="MLGIWTLLPLVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTV
                     ETQNLEGLHHDGQFCHKPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCR
                     RCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLT
                     SNTKCKEEGSRSNLGWLCLLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPE
                     TVAINLSDVDLSKYITTIAGVMTLSQVKGFVRKEWCQ"
     variation       749
                     /gene="FAS"
                     /replace=""
BASE COUNT          343 a          204 c          218 g          244 t
ORIGIN      
        1 atgctgggca tctggaccct cctacctctg gttcttacgt ctgttgctag attatcgtcc
       61 aaaagtgtta atgcccaagt gactgacatc aactccaagg gattggaatt gaggaagact
      121 gttactacag ttgagactca gaacttggaa ggcctgcatc atgatggcca attctgccat
      181 aagccctgtc ctccaggtga aaggaaagct agggactgca cagtcaatgg ggatgaacca
      241 gactgcgtgc cctgccaaga agggaaggag tacacagaca aagcccattt ttcttccaaa
      301 tgcagaagat gtagattgtg tgatgaagga catggcttag aagtggaaat aaactgcacc
      361 cggacccaga ataccaagtg cagatgtaaa ccaaactttt tttgtaactc tactgtatgt
      421 gaacactgtg acccttgcac caaatgtgaa catggaatca tcaaggaatg cacactcacc
      481 agcaacacca agtgcaaaga ggaaggatcc agatctaact tggggtggct ttgtcttctt
      541 cttttgccaa ttccactaat tgtttgggtg aagagaaagg aagtacagaa aacatgcaga
      601 aagcacagaa aggaaaacca aggttctcat gaatctccaa ctttaaatcc tgaaacagtg
      661 gcaataaatt tatctgatgt tgacttgagt aaatatatca ccactattgc tggagtcatg
      721 acactaagtc aagttaaagg ctttgttcgg aaagaatggt gtcaatgaag ccaaaataga
      781 tgagatcaag aatgacaatg tccaagacac agcagaacag aaagttcaac tgcttcgtaa
      841 ttggcatcaa cttcatggaa agaaagaagc gtatgacaca ttgattaaag atctcaaaaa
      901 agccaatctt tgtactcttg cagagaaaat tcagactatc atcctcaagg acattactag
      961 tgactcagaa aattcaaact tcagaaatga aatccaaagc ttggtctag
//