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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PROC (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 5624 Official gene symbol PROC Full name protein C (inactivator of coagulation factors Va and VIIIa) Aliases ,APC,PC,PROC1, Gene summary This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis. Location Chromosome: 2   Locus: 2q13-q14 Gene position 128175996 - 128186822  Map Viewer Gene orientation plus Gene size 10827 bp Gene sequence >PROC:17924659..17935485:Length=10827 ATGGATTAACTCGAACTCCAGGCTGTCATGGCGGCAGGACGGCGAACTTGCAGTATCTCC ACGACCCGCCCCTGTGAGTCCCCCTCCAGGCAGGTCTATGAGGGGTGTGGAGGGAGGGCT GCCCCCGGGAGAAGAGAGCTAGGTGGTGATGAGGGCTGAATCCTCCAGCCAGGGTGCTCA ACAAGCCTGAGCTTGGGGTGAAAGGACACAAGGCCCTCCACAGGCCAGGCCTGGCAGCCA CAGTCTCAGGTCCCTTTGCCATGCGCCTCCCTCTTTCCAGGCCAAGGGTCCCCAGGGCCC AGGGCCATTCCAACAGACAGTTTGGAGCCCAGGACCCTCCATTCTCCCCACCCCACTTCC ACCTTTGGGGGTGTCGGATTTGAACAAATCTCAGAAGTGGCCTCAGAGGGAGTCGGCAAG AATGGAGAGCAGGGTCCGGTAGGGTGTGCAGAGGGCCACGTGGCCTATCCACTGGGGAGG GTTCCTTGATCTCTGGCCACCAGGGCTATCTCTGTGGCCTTTTGGAGCACCTGGTGGTTT GGGGCAGGGGTTGAATTTCCAGGCCTAAAACCACACAGGCCTGGCCTTGAGTCCTGGCTC TGCGAGTAATGCATGGATGTAAACATGGAGACCCAGGACCTTGCCTCAGTCTTCCGAGTC TGGTGCCTGCAGTGTACTGATGGTGTGAGACCCTACTCCTGGAGGATGGGGGACAGAATC TGATCGATCCCCTGGGTTGGTGACTTCCCTGTGCAATCAACGGAGACCAGCAAGGGTTGG ATTTTTAATAAACCACTTAACTCCTCCGAGTCTCAGTTTCCCCCTCTATGAAATGGGGTT GACAGCATTAATAACTACCTCTTGGGTGGTTGTGAGCCTTAACTGAAGTCATAATATCTC ATGTTTACTGAGCATGAGCTATGTGCAAAGCCTGTTTTGAGAGCTTTATGTGGACTAACT CCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTA CAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTA AGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCT GTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCC CAGTCATCAGACCGGCAGAGGCAGCCACCCCACTGTCCCCAGGGAGGACACAAACATCCT GGCACCCTCTCCACTGCATTCTGGAGCTGCTTTCTAGGCAGGCAGTGTGAGCTCAGCCCC ACGTAGAGCGGGCAGCCGAGGCCTTCTGAGGCTATGTCTCTAGCGAACAAGGACCCTCAA TCCCAGCTTCCGCCCTGACGGCCAGCACACAGGGACAGCCCTTTCATTCCGCTTCCACCT GGGGGTGCAGGCAGAGCAGCAGCGGGGGTAGGCACTGCCCGGAGCTCAGAAGTCCTCCTC AGACAGGTGCCAGTGCCTCCAGAATGTGGCAGCTCACAAGCCTCCTGCTGTTCGTGGCCA CCTGGGGAATTTCCGGCACACCAGCTCCTCTTGGTAAGGCCACCCCACCCCTACCCCGGG ACCCTTGTGGCCTCTACAAGGCCCTGGTGGGCATCTGCCCAGGCCTTCACAGCTTCCACC ATCTCTCTGAGCCCTGGGTGAGGTGAGGGGCAGATGGGAATGGCAGGAATCAACTGACAA GTCCCAGGTAGGCCAGCTGCCAGAGTGCCACACAGGGGCTGCCAGGGCAGGCATGCGTGA TGGCAGGGAGCCCCGCGATGACCTCCTAAAGCTCCCTCCTCCACACGGGGATGGTCACAG AGTCCCCTGGGCCTTCCCTCTCCACCCACTCACTCCCTCAACTGTGAAGACCCCAGGCCC AGGCTACCGTCCACACTATCCAGCACAGCCTCCCCTACTCAAATGCACACTGGCCTCATG GCTGCCCTGCCCCAACCCCTTTCCTGGTCTCCACAGCCAACGGGAGGAGGCCATGATTCT TGGGGAGGTCCGCAGGACACATGGGCCCCTAAAGCCACACCAGGCTGTTGGTTTCATTTG TGCCTTTATAGAGCTGTTTATCTGCTTGGGACCTGCACCTCCACCCTTTCCCAAGGTGCC CTCAGCTCAGGCATACCCTCCTCTAGGATGCCTTTTCCCCCATCCCTTCTTGCTCACACC CCCAACTTGATCTCTCCCTCCTAACTGTGCCCTGCACCCAAGACAGACACTTCACAGAGC CCAGGAGACACCTGGGGACCCTTCCTGGGTGATAGGTCTGTCTATCCTCCAGGTGTCCCT GCCCAAGGGGAGAAGCATGGGGAATACTTGGTTGGGGGAGGAGAGGAAGACTGGGGGGAT GTGTCAAGATGGGGCTGCACGTGGTGTACTGGCAGAAGAGTGAGAGGATTTAACTTGGCA GCCTTTACAGCAGCAGCCAGGGCTTGAGTACTTATCTCTGGGCCAGGGACTGTATTGGAT GTTTTACATGACGGTCTCATCCCCATGTTTTTGGATGAGTAAATTGAACCTTAGAAAGGT AAAGACACTGGCTCAAGGTCACACAGAGATCGGGGTGGGGTTCACAGGGAGGCCTGTCCA TCTCAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGA GGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAG ACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTT AGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGC AGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAG CTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCC AAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGG CTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGA GGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGAT GTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGT GTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCT CCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGA CCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTT CTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTC AGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCC CCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTT CCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGA AAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCT TTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGA CTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAG ACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCC ACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGC ATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGC CGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAAC TCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGG CAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTT GCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGG GAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAG GGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCC CTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGG GCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTG GCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGC CCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTG ACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCA CGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCT TCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGC CGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGA GCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGG GCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTC ACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGG CAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAG GAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGC GCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGT CCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCA GTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCC ATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTA CCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCT TTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAA CTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAA AAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTT ATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATT CAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTT TTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGT CCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCA AGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCC CAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTG AACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTC TGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAG AGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGT GAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATT TTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCT GTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGG GCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACG CTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCA GGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGC GGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAG TCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCAC CTGCACTGCCTTCCTGGAAGCCCCACAGCCTCCTATGGTTCCGTGGTCCAGTCCTTCAGC TTCTGGGCGCCCCCATCACGGGCTGAGATTTTTGCTTTCCAGTCTGCCAAGTCAGTTACT GTGTCCATCCATCTGCTGTCAGCTTCTGGAATTGTTGCTGTTGTGCCCTTTCCATTCTTT TGTTATGATGCAGCTCCCCTGCTGACGACGTCCCATTGCTCTTTTAAGTCTAGATATCTG GACTGGGCATTCAAGGCCCATTTTGAGCAGAGTCGGGCCGACCTTTCAGCCCTCAGTTCT CCATGGAGTATGCGCTCTCTTCTTGGCAGGGAGGCCTCACAAACATGCCATGCCTATTGT AGGAGCTCTCCAAGAATGCTCACCTCCTTCTCCCTGTAATTCCTTTCCTCTGTGAGGAGC TCAGCAGCATCCCATTATGAGACCTTACTAATCCCAGGGATCACCCCCAACAGCCCTGGG GTACAATGAGCTTTTAAGAAGTTTAACCACCTATGTAAGGAGACACAGGCAGTGGGCGAT GCTGCCTGGCCTGACTCTTGCCATTGGGTGGTACTGTTTGTTGACTGACTGACTGACTGA CTGGAGGGGGTTTGTAATTTGTATCTCAGGGATTACCCCCAACAGCCCTGGGGTACAATG AGCCTTCAAGAAGTTTAACAACCTATGTAAGGACACACAGCCAGTGGGTGATGCTGCCTG GTCTGACTCTTACCATTCAGTGGCACTGTTTGTTGACTGACTGACTGACTGACTGGCTGA CTGGAGGGGGTTCATAGCTAATATTAATGGAGTGGTCTAAGTATCATTGGTTCCTTGAAC CCTGCACTGTGGCAAAGTGGCCCACAGGCTGGAGGAGGACCAAGACAGGAGGGCAGTCTC GGGAGGAGTGCCTGGCAGGCCCCTCACCACCTCTGCCTACCTCAGTGAAGTTCCCTTGTG GGAGGCCCTGGAAGCGGATGGAGAAGAAGCGCAGTCACCTGAAACGAGACACAGAAGACC AAGAAGACCAAGTAGATCCGCGGCTCATTGATGGGAAGATGACCAGGCGGGGAGACAGCC CCTGGCAGGTGGGAGGCGAGGCAGCACCGGCTGCTCACGTGCTGGGTCCGGGATCACTGA GTCCATCCTGGCAGCTATGCTCAGGGTGCAGAAACCGAGAGGGAAGCGCTGCCATTGCGT TTGGGGGATGATGAAGGTGGGGGATGCTTCAGGGAAAGATGGACGCAACCTGAGGGGAGA GGAGCAGCCAGGGTGGGTGAGGGGAGGGGCATGGGGGCATGGAGGGGTCTGCAGGAGGGA GGGTTACAGTTTCTAAAAAGAGCTGGAAAGACACTGCTCTGCTGGCGGGATTTTAGGCAG AAGCCCTGCTGATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCT CCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAA CCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAG ACCCGGCAGCCCAGTGGGACCACAGCCAGGACGGCCCTTCAAGATAGGGGCTGAGGGAGG CCCAAGGGGAACATCCAGGCAGCCTGGGGGCCACAAAGTCTTCCTGGAAGACACAAGGCC TGGCCAAGCCTCTAAGGATGAGAGGAGCTCGCTGGGCGATGTTGGGTGTGGCTGAGGGTG ACTGAAACAGTATGAACAGTGCAGGAACAGCATGGGCAAAGGCAGGAAGACACCCTGGGA CAGGCTGACACTGTAAAATGGGCAAAAATAGAAAACGCCAGAAAGGGCCTAAGCCTATGC CCATATGACCAGGGAACCCAGGAAAGTGCATATGAAACCCAGGTGCCCTGGACTGGAGGC TGTCAGGAGGCAGCCCTGTGATGTCATCATCCCACCCCATTCCAGGTGGTCCTGCTGGAC TCAAAGAAGAAGCTGGCCTGCGGGGCAGTGCTCATCCACCCCTCCTGGGTGCTGACAGCG GCCCACTGCATGGATGAGTCCAAGAAGCTCCTTGTCAGGCTTGGTATGGGCTGGAGCCAG GCAGAAGGGGGCTGCCAGAGGCCTGGGTAGGGGGACCAGGCAGGCTGTTCAGGTTTGGGG GACCCCGCTCCCCAGGTGCTTAAGCAAGAGGCTTCTTGAGCTCCACAGAAGGTGTTTGGG GGGAAGAGGCCTATGTGCCCCCACCCTGCCCACCCATGTACACCCAGTATTTTGCAGTAG GGGGTTCTCTGGTGCCCTCTTCGAATCTGGGCACAGGTACCTGCACACACATGTTTGTGA GGGGCTACACAGACCTTCACCTCTCCACTCCCACTCATGAGGAGCAGGCTGTGTGGGCCT CAGCACCCTTGGGTGCAGAGACCAGCAAGGCCTGGCCTCAGGGCTGTGCCTCCCACAGAC TGACAGGGATGGAGCTGTACAGAGGGAGCCCTAGCATCTGCCAAAGCCACAAGCTGCTTC CCTAGCAGGCTGGGGGCACCTATGCATTGGCCCCGATCTATGGCAATTTCTGGAGGGGGG GTCTGGCTCAACTCTTTATGCCAAAAAGAAGGCAAAGCATATTGAGAAAGGCCAAATTCA CATTTCCTACAGCATAATCTATGGCCAGTGGCCCCCCGTGGGGCTTGGCTTAGAATTCCC AGGTGCTCTTCCCAGGGAACCATCAGTCTGGACTGAGAGGACCTTCTCTCTCAGGTGGGA CCCGGCCCTGTCCTCCCTGGCAGTGCCGTGTTCTGGGGGTCCTCCTCTCTGGGTCTCACT GCCCCTGGGGTCTCTCCAGCTACCTTTGCTCCACGTTCCTTTGTGGCTCTGGTCTGTGTC TGGGGTTTCCAGGGGTCTCGGGCTTCCCTGCTGCCCATTCCTTCTCTGGTCTCACGGCTC CGTGACTCCTGAAAACCAACCAGCATCCTACCTCTTTGGGATTGACACCTGTTGGCCACT CCTTCTGGCAGGAAAAGTCACCGTTGATAGGGTTCCACGGCATAGACAGGTGGCTCCGCG CCAGTGCCTGGGACGTGTGGGTGCACAGTCTCCGGGTGAACCTTCTTCAGGCCCTCTGCC CAGGCCTGCAGGGGCACAGCAGTGGGTGGGCCTCAGGAAAGTGCCACTGGGGAGAGGCTC CCCGCAGCCCACTCTGACTGTGCCCTCTGCCCTGCAGGAGAGTATGACCTGCGGCGCTGG GAGAAGTGGGAGCTGGACCTGGACATCAAGGAGGTCTTCGTCCACCCCAACTACAGCAAG AGCACCACCGACAATGACATCGCACTGCTGCACCTGGCCCAGCCCGCCACCCTCTCGCAG ACCATAGTGCCCATCTGCCTCCCGGACAGCGGCCTTGCAGAGCGCGAGCTCAATCAGGCC GGCCAGGAGACCCTCGTGACGGGCTGGGGCTACCACAGCAGCCGAGAGAAGGAGGCCAAG AGAAACCGCACCTTCGTCCTCAACTTCATCAAGATTCCCGTGGTCCCGCACAATGAGTGC AGCGAGGTCATGAGCAACATGGTGTCTGAGAACATGCTGTGTGCGGGCATCCTCGGGGAC CGGCAGGATGCCTGCGAGGGCGACAGTGGGGGGCCCATGGTCGCCTCCTTCCACGGCACC TGGTTCCTGGTGGGCCTGGTGAGCTGGGGTGAGGGCTGTGGGCTCCTTCACAACTACGGC GTTTACACCAAAGTCAGCCGCTACCTCGACTGGATCCATGGGCACATCAGAGACAAGGAA GCCCCCCAGAAGAGCTGGGCACCTTAGCGACCCTCCCTGCAGGGCTGGGCTTTTGCATGG CAATGGATGGGACATTAAAGGGACATGTAACAAGCACACCGGCCTGCTGTTCTGTCCTTC CATCCCTCTTTTGGGCTCTTCTGGAGGGAAGTAACATTTACTGAGCACCTGTTGTATGTC ACATGCCTTATGAATAGAATCTTAACTCCTAGAGCAACTCTGTGGGGTGGGGAGGAGCAG ATCCAAGTTTTGCGGGGTCTAAAGCTGTGTGTGTTGAGGGGGATACTCTGTTTATGAAAA AGAATAAAAAACACAACCACGAAGCCA OMIM ID 612283