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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for SERPINH1 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 871 Official gene symbol SERPINH1 Full name serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) Aliases ,AsTP3,CBP1,CBP2,HSP47,PIG14,PPROM,RA-A47,SERPINH2,gp46, Gene summary This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. Its expression is induced by heat shock. The protein localizes to the endoplasmic reticulum lumen and binds collagen; thus it is thought to be a molecular chaperone involved in the maturation of collagen molecules. Autoantibodies to this protein have been found in patients with rheumatoid arthritis. [provided by RefSeq] Location Chromosome: 11   Locus: 11q13.5 Gene position 75273170 - 75283846  Map Viewer Gene orientation plus Gene size 10677 bp Gene sequence >SERPINH1:20578965..20589641:Length=10677 TCTTTGGCTTTTTTTGGCGGAGCTGGGGCGCCCTCCGGAAGCGTTTCCAACTTTCCAGAA GTTTCTCGGGACGGGCAGGAGGGGGTGGGGACTGCCATATATAGATCCCGGGAGCAGGGG AGCGGGCTAAGAGTAGAATCGTGTCGCGGCTCGAGAGCGAGAGTCACGTCCCGGCGCTAG CCCAGCCCGACCCAGGTGAGGGGCGGGAGACGCCTGCGTGCGTGCGGCCCGGGGGAGCGC CGAGCAATCTGGGGGTGCGCGAGGGAGTAAGAGGGGCGAGGGGACCCTGCGAAGCGTTGG GTGCCGAGCCAGAGCCTACAAATTGGAGTCCTCGGCACTTTGGGGGCCGCTGGAGGGTTT GGAATCGAGAGCCCAGGGCTAGCCAGTGATGGTGCCAGCTGAGGGCTAGGGCGGAGATCG GAGCCGGGTTGGGAGTCCGTGCACTCGGAGGACTGGGAAAAAGTGCAGGGACCCCTAAAA GGTGGTGGTGGCAGATACGAGACTAGGTGCTGTGTAAAGGGGGCTGGGGGCAGAGAGCAG AGCCTCTGCGGAAAGAAACAGAGGAGGAAGGAGATGGGTCTGGTGCCTCTTCCCGCAAGG GTAGGGAGGATAGGCCGGCCTCGCAGTTCCAGGTCACTTCCGTTCTGGGGTTGAGGCTCA GGGGCAGCGGTGATTGGTGGCCCAGCCTCCTCACAGGCTTGCTGAGGGAATTTGAGCTTC CGGTGGTGGGAAAGGAGGTGAAATCGTCTCGACTCCTGGGGTCCGTGTGCTCTGGTAGAA GTGGGCGACAGTGGCTCAATTTCTGATCAGCAGCTTGCAGCCTAGATGATGGCAGCCAAA GGAAAGACTTGGCCAGCGAGGCTCCCTACCACTCCGAAAAAAGAGAGTGGGGGTCAGCAG GGTCTGCTCTGCTCTGGGGATTAAGGGGCTGACTAGAAGGATTTGAGTCTTTCCTTCTGT CCACTGCCACAGGGTTCTTGGAGTAACTGCAGGGTTTAAACTGCAGGGTCTAACTTCCAG AGGCTGGGGTTCCCTGCCCCCCAGCTTAGAGACATTCCTGAGGTGGCTGAAGAGCAGGAA GGAGAATGAATGCACTTCCAGACTGGCCCAGAGTCTCAGCCCCTCCTCTTCCTTGTTTCC CGCTGGTCCCTCTGGGCTGTACGGCCCGGATGGAGGCCTGAGGAAAATGAGGGGGCTTTG GTTCTCCGGAATTCCGGCCGGGGCCACACCCTCCTGTCTTCAGATGGTTCATGTACCCAT CCCCCCTTCCCGTCCTCTCCTTTGTCTCCTCTGTCACCGGGACTCCCAGCAGAGATTTTT TTTTTGTACTGGCTGTGTAACAGGACACCGCATGCAGCCCTCAGGAGGGGCTCTGTGCTT CTGTGAGGAAGGACCCCTGTGCTGGGAAGGCAGACCCCTGTTTATCCCGAGGGACCTGGG GTGACCCCCTGCCCTGGCCTTGTTTCTCCCATTTTACAGTGAGGTGGTCGATCTCCAAGG TCCCTGTAGATTGGGGACTGGTTGTGCCCTCTGCGCCAGGGGCCTCCTCACCATCTCTCC TTTGCCGGCTCCCGCCCTCTTCACTCTTCTGTTTTCTTTCAGAATGAAAAAGGCAGGCAT TGACCTCCCTCTGAGGCAGTTTCCAGGTACTTTAGACCTCTCAAGTGTTTGGGACCCTCT GGTGGGGTCCCATCATCTCCTCCCCTTCCCTTCCAGACCCTGCTCAGTCCAGCTAGCTGT GGGCACAGCCCTGGCTAGGTGATCTTGTATTTTCTTTGTGGGACTGTAACTCAGCTAACC TTGGCCTGAGGGCTGGCATTTCTCTGTGGCAAGATGGGCTGGGCTGTGGGAGGCTGGCCT GCTTGCAGTAACTTGCCTTCCCCCATTCCTGCTGCTGGGTTCAGTGGGGCTGCCCTTCTC CCCAGTAGCGCATTTCCCTTCAGAGATTCATGTGCGGATGGGAAGGGAACTAAGGCCAAG AAGGCTCCTGGAGTCCCCTGGCAAATATGTGGCACCCCCTGGGACCTGAGTCAGGCCTGC TTCCCAGGCTGGAAGCCCCCCTCTGCCGGCCGGTGGAGATAGTTCAGCCTCCTGCCTGCC ACGTCACCACCAGGAGCAGGCGCTAAGCTGCTGCGGGCCTAGCGGGCTGCCTGAGGAATC CCAAACCAGTTATTTGGAGCTTGCTTGAGAAGCCCCTCCCAGTCCTTTGAGGTTCTGGCT GGTGGGGGTGGGGGCTGTCAAGATGGTACCTGCCACGTGGCATGGCTGGGAGTGGGCTCT TCAGCTGCCTCCTCAGGGAAGGAAGGCTGTTGGCCTCTGCTGTGGTCTGAGCTCCAGCAT CACTGGTCTGGATCAGAGGTGGCTTTTGAGTAGGGTGGCCATATGCCTATTGTCCTGGCA TAATAATTAGTAGTGCCCATTTTACTCTTATAAGTGTCCTTGTTTGTGCAATAAATTATA TGGTTGCTCTGCCTTTGAGGCTCCAGTTCTGGCAGGGAAGGAGCCAGAGCTGGGAGGGAG GTGTCTTGGGGTTTATTCTAGGCCCCAAGATATCCCCTTCATTTTAGGGTGAGACTCAGA TCTCCCCGCTCCTTCCAGACATTTTTAGATCTCTGGGCCTTCCCTCCTCTCCCCACCTCC CTCCCCTTGGACCCTTTGCTTATCTTATACTGCACCTTCAAGGCTCCGAGGAGGGAGGCA GTCCCGGGAGATGGGGAGCCTGTCCAGGTTTTTGGGATGGCAGCAGTAGAATCTTCCCAG AAATACAGTGGTCCCCAGGCAGCCAGAGTCCTGAGGGTCTTCCACCAGGATTTCAAATGT TCGGTCTTCTTCAAGGATGACTACAAGTTGGGATCTACCAGAGCAGTGGGATCGCAGCCT CCACCAGGATTCCTTCTATCCTTCCCTTTGCCCTGTCATCTCTCCTGTGCTGTTGCATGA TGTAGAGGAGGATAATGGCCCGAAGGGAGAGAGGGAGTGTGGAAGTATCCCAGGAACAGA GACTGTCCAAATTGGAGGCCCCAGAGAGGGAACTGGGGCTTGTCCTTGGGGCCACTGCTA CTGCTGGGGCTTGGGGAGGAGGCCTGAGGGCAACCCTGAAGCCGTGGAGCAGATGGCCTG TGTGGCAGTGGCTGTCAGATTGGAGGGCAGAATGGAATCTGATGTGGCTCCAGCTTCTTT GAAGGCTGAGTGCACATCTGGCCAGCTGCTGGTGATGGGGAAGGGGGTCACTGCTCTATT GAGCTATGTGTGACTCACCCTTTTCCCTAGTATCCTGTCCTTGTGCTATGTCAGGAAGCC TCCTCCCCAGCCCCACCGAGTCTTCAAAGGAGTTGGTCCCCCAGGAGCTTTTGTCCTGGG GATTTCCCATCCGCACTGGGAGCACTGTGGGTAGATGGGCATTCCAAGTTCCTGCCCAGA CAGAAGCCATGGGCATGGAGACCTGGACCTTTCAGCTTGGAAAAGGGAGACTGAGGCTGA GTGGACACAGGACACACACACACACACTCTCAGGGTCACCCTTGGGGCAGCAAAGTGGAG CATCTTGGCTCCCCATTTAATGAGTGACCCAACTGGTGACTCATTAACATCCCAGAGCAG AATGAAAGGCATGGGGGCGGGGCAGCCCTCCGGCTCTGTCCCTCATCCCTTGCCCAGGCA TCTGGGTTTCCTGCAGATTCTCAGCTCAGCTGCTGCTTTTTCTCACTGGAAAAGGGCTCC CAGGGCTATGTGAGATCAGGGCTGACCACTCTATAAACTGATGAGGACCCCAGGTCTGGC CAAGTGACCCTGTTTTACCTTCGTTCAGGAAGAGCTGAGGCCTACTGTGTACTAGGCACG GGAGATATAGTGGCAACCAGATTGGCTAGCTTTTCTGTCCTGGAGGCCACAGCCTACTTA GGAGCAGAAATAGTTATGAAATAAACACACAAATAAGTGGAAGTGTTGGCTGGCCGATGC AGGAAATCAATAAGGTGGTCTGGTGGTGACTTGCTGGGAATGCTTCTTTGAGTAGGGAGG TAACAGAGGCCTCTGAGAGGCTGGCAGCTCTGAGTCAAGTCTGGGATTCCTGGACTGTGG GCTCTCTTGCCCCCATCTCCAGGGGACTTGTGGCAGCCAGAGAGCTGAGGGTGGTTGTTG GGGAGGAAGGCCTTGGGCTTCAAGACCACCCTGTCTGTGCAATCCTCACAGGCCCACCGT GGTGCACGCAAACCACTTCCTGGCCATGCGCTCCCTCCTGCTTCTCAGCGCCTTCTGCCT CCTGGAGGCGGCCCTGGCCGCCGAGGTGAAGAAACCTGCAGCCGCAGCAGCTCCTGGCAC TGCGGAGAAGTTGAGCCCCAAGGCGGCCACGCTTGCCGAGCGCAGCGCCGGCCTGGCCTT CAGCTTGTACCAGGCCATGGCCAAGGACCAGGCAGTGGAGAACATCCTGGTGTCACCCGT GGTGGTGGCCTCGTCGCTAGGGCTCGTGTCGCTGGGCGGCAAGGCGACCACGGCGTCGCA GGCCAAGGCAGTGCTGAGCGCCGAGCAGCTGCGCGACGAGGAGGTGCACGCCGGCCTGGG CGAGCTGCTGCGCTCACTCAGCAACTCCACGGCGCGCAACGTGACCTGGAAGCTGGGCAG CCGACTGTACGGACCCAGCTCAGTGAGCTTCGCTGATGACTTCGTGCGCAGCAGCAAGCA GCACTACAACTGCGAGCACTCCAAGATCAACTTCCGCGACAAGCGCAGCGCGCTGCAGTC CATCAACGAGTGGGCCGCGCAGACCACCGACGGCAAGCTGCCCGAGGTCACCAAGGACGT GGAGCGCACGGACGGCGCCCTGCTAGTCAACGCCATGTTCTTCAAGCGTGAGTCGGGGGC GCGTTCAGGGGTCCTCCTCCTCCTCCCAGGACCCCCTGCAAGAGTTAGGACGACATTCCG TGCGCTCCATTCTTCACTGCCTCTCATTTATGCTGTGACAACCCAGGGAGGCAGGACTGT CACTCAGCTTTTTGTACAGACTGGAAACTAGATTCAGAGACAGGTAGCAGCGTGTAAAGG AATGGTTCAGGGAGCGGAGGCCCCAGAGGGACTCCATGGAATGTATTCCGACCGAATTTC GTCAAAGTGCTCGTCCTTGTGTATCTTGGAATGAATAACATTTAATAATCCATTCTGCCT CAGTAGTGAGCTAGAGAAAGAACTCAAATCCTTTTTTTAAAATTATTTTTATTTTGAGAT GGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAGCC TTGGCCTCCGGGCTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGGTTACAG GTGCCTACCACCACACCCAGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCCATG TTGGCCAGGCTGGTCTCAAACTTTTGGTCTCAAGTGATCTGCCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGTGCGAGCCACCATGTGCGGCCAAGACCCAGAATCCTTAAAGCAA CCTTGGGGGCAGGCAGTGTTACCTTCATTTCACAGTGAGGAAACTGAGGCTCAGCAAGGA GGAAGCAGAGCCAGGCCTCAGGCCCAGATGCCTCTGTCTTCAGTTGAAGATTAGATGTAG GGTTAATAAATATTTTTGAGTACCTCCATAGACAACACTATTCTCACAGTTTGCTGTGAG AATGAAGTAACCCTCGTTTTACAAATGAGGCCAAGCTAGGAGAGCTGAGGTCTCCCCGAG TCAGTGGCTGAGCTTGGATTGGAACACAGGTCTGGCTGTGAGCAAGGGCAGGGTTCAGGC CACTCTCAGACATTTTTTGTTGTTATTTTCTGGTCATGGAGACAGAACTTGCAGAGGAAA ACGAAGGGTGGGCTGAGCACAGTAGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAA GGTGGGTGGATCACATGAGCCCAGGAATTTGAGACCAGCCTGGGTAAGATGGCGAAACCC CATGTCTACAAAAAATTAGCCAGGCGTGGTGGCGCATGCTGGTAGTCCCAGCTACTCTGG AGGCTGAGGTGGGAGGATCGCTGGAGCCTGGGAATTCAAGACTGCAGTGTGTCATGATTG TACCACTGCACTCCAGCTGTAGGATGGAGTGGGACGGACCTTGTCTCAAAAAGAAAAAGA TAAAAAAAAAATTAAGGGTGGTCATGGGGCACTCCCTGCCCAGGGCACAGCTGTCCCCCA GGTACCAGGGAGGGTAGAAAGCCCACCTCAGAGCATGTTTCCAAAATATCTGACAAGTGC TAGAGCCGGGGGTGGCCATAGAGGTGGCTGACCTGAGGGCGGAATTAATTCTCTATCATA TGGGAGCAGCAGGCACTGACTGTAGGGAACCGCATCCTCAGATGGCATGTCCTGGGGCCA AGACCCCTTCCCAAAGCTGGGAACATAGACTCTGTGGGCTGGGTGCTCTATAGCTGGGCC CTGAAGAATGGAGCAAAGACCTGTGGCAAGGATAAATCAAGGTCTGCAGCCGGGGGTGGC TGTGGGCTGTGATTGTGTTTGGGGGCGGCCATGTGTCTCTGACCCTGTGTTTTGCCCCAA CTACAGCACACTGGGATGAGAAATTCCACCACAAGATGGTGGACAACCGTGGCTTCATGG TGACTCGGTCCTATACCGTGGGTGTCATGATGATGCACCGGACAGGTAGGTGCTGTGAGG AGCAGGGTGTCAAGGTGGGTGGGGGTCCAAGGGTAGTTGGTCTGACCCACCCCTGCACAC AGGGTGCCCAGTGTCCTTTCCGCTCCTCTCCCAGGCCTCTACAACTACTACGACGACGAG AAGGAAAAGCTGCAAATCGTGGAGATGCCCCTGGCCCACAAGCTCTCCAGCCTCATCATC CTCATGCCCCATCACGTGGAGCCTCTCGAGCGCCTTGAAAAGCTGCTAACCAAAGAGCAG CTGAAGATCTGGATGGGGAAGATGCAGAAGAAGGCTGTTGCCATCTCCTTGCCCAAGGGT GTGGTGGAGGTGACCCATGACCTGCAGGTAAGGGGTGGCCCAGCCTAGGGGCCTGCAGGC CTTGGAGCCAGGGGGAGGTGCTTGGGGGACCCACTCACCAATTCAGCAGGTCTGTCCCAA GACCCCCTGGATGTCCAGGCAGTGCTGGGCTCTGTGATGGGGGAAGCTGGGGCAGGAGGT GTGGGCCATGCCCTTGGGAAGATGATGATAATACCAGCAGCTAAATATAACGGAACATTC CTGTATGCTAGGCGTTCTTCTAAGCACTTTATATGTATTATTATTATTTTTTTTTTGAGA TGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCGACTCACTGCAAC CTCCACTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACA GGCATGTGCCACCACCCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGATTTCACCAT GTTGGCCAGGCTGGTCTCAAACTCCTGACATCAAGTGATCCTCCTGCCTCAGCCTCCCAA AGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCTTTATACGTATTAAACTCTTTT AATCCTCAAAACGACTTTATTAGGTAGGACTATAAGTTTCATCTTAGAGATGAGGAAACT GAGGCTCAGAAAGGTTAAGTAACCTGTGCAAAGTCACACAGCTAGTAATTCAGACATCTT GCACCAGAGCTAACCCTCGGTCACTGCACTGCCTCTGAGGTCTGAAGTGCCCCCAGTTAT AGATTGTTTAAGCTAGAGGATTATCTACCATCCAATAATCAGACTGGTAGCTATGGGTCA TCTAGGATGGCCAGAAACTTAACACACATTCTCAAGATTCTCCCTTGCAACCACCCTGGG TAGTGGGCAGAGGCTCAGAGAGAAGCAATGACTCCCTAAGGTTCCCCAGGCTCATAAGTG GTGGAGTTGCAATTAGACCTCAAGGTAAAAACATAATAGCCGCCTTTTTGTCAATCGAGA GATATTTTTGACTTACCCAAAAAAGGAAACTTTCGTGTCATTCTTTCCTTGGATGCCACA AATGGTTCTCACCTGCAGAATCGATCCAGACTTGCTGCCCAGAGAGCTTGGAGAGATAAA GCTGGAGATGAAGTGGGGCTTAGGCTCCAAACCAGGGACAAGTGGAGCTCGTACTGGTCT GTGCTGTAGACCCTGGGAGTTCCTGGAGAGGGGTCACTGTCTCTCTCCTGGTCCTGGCCC TGATCCTTCCCCAGCCCCTTCTCCAGTGGCTGTTGTCCCACCCCCTTCTCCCCTTGTTCC TCTGGTGTCTTCCTGGAACCCTCAGTGGAGACCCCACCCCCCAGATATGGGGTAGATTGA GTTAGGAAATTTGAGGCGGATGACGTGTGCAAGGTCATCCGGGTGGGAAGAGCTGGGCCT ACCTCGAATGCCTGTCTCATGACCCCCTGACTCTCAGGACCTCAGGCCTAGTTCCTGTGT GGCCTTGCCAGGGAGGTGGATGTTATCCTGAAGAATCCTGGACCCGGATGCTGCCATTCA CTCAGCCCACAGCCATTTACTGTCCTCTCTCCTGCATTGAGAGCCAGGGAGAGCGCTGGA CATGGGCCCCGCCCTCAGGGAGCTCCAAGCCAGGTGGGAGAGACAGGCAGCACCAGACTG ATAACAGGAAGGTCCAGGGAGGCACCACTCATCCTGTGGGCTCGGGAAGGCTTCCTGAAA GAAGTGGTTTCTAAAGAGCCCTAATGGGAGACAGGATGGCCATCCAGGATATAAGCTGTT CTGTGAGGCTGTCTGGAGAGTGGGGTGGGGCGTGCCAAGGGATGTGGCTGGAGGCTGCCA CGTAGGCACAGGTCATATGTTAAAGAGCTTATGGTTGGCTTCCAAGAGCTGTGCAGGGCC ATGGAAAGATGTTTGTGTGTGTGTGTGTGTGTATGTGTGTATATGTGTTTTAACTTTTTA CTATCGAACATTGGAAAAATAAAAGTAGATTAGTGTAATGAAACCTCAAGTGTCTGTCGC CCAGCTTCAAGCATTATCAGCTCATGGCCAATAGTGATCCATTTATACCCACTAATTCCC CCCTGCATCTGATTATTCTGAAGCAAATTCCAGGCATCCTATCACTCTGGACAGGTTTTC AGCCCCAGAGTGATGTGGACATAGTTGTCCTTAGATCAGTCTTTCTCAAACTTGAGTATG CTAAGAAAGCACTTGGGGAGTTTGTGAAAAGGAATCCATGCCCACTCCCAGAGATTCTGA TTCAGGGGGTCTGGGCTGGGGTCAGGACATGAGCATTTGAGATAAGCTCCTGGGTGGTGC CCATGCTGTCTGTCCCTGAACTGCAGCTGGGCAGTGCCGGGATACGTTCTCACTTGTTTT TCTGAGTCTCAGCTTCCTCATCTGTGAAGTGGCAATTAGAAGCCCTTGTAGGGTTGCAGT GAGAATTGAGAAAGCTGTGATTTGAAGTGCCAGTGCCATGCCTGGCATACAGAAGGTGAC CAGGGGGTGGTTCTCTCCTCTCTGAGGAGCGGTCAGGGTAGTATGGGGTGGAGGGTTTGA GGGTGGAGGAGCCTGGCAGCCATGGCCTCACCTGGCACACCTCCTTGTTCCCACAGAAAC ACCTGGCTGGGCTGGGCCTGACTGAGGCCATTGACAAGAACAAGGCCGACTTGTCACGCA TGTCAGGCAAGAAGGACCTGTACCTGGCCAGCGTGTTCCACGCCACCGCCTTTGAGTTGG ACACAGATGGCAACCCCTTTGACCAGGACATCTACGGGCGCGAGGAGCTGCGCAGCCCCA AGCTGTTCTACGCCGACCACCCCTTCATCTTCCTAGTGCGGGACACCCAAAGCGGCTCCC TGCTATTCATTGGGCGCCTGGTCCGGCCTAAGGGTGACAAGATGCGAGACGAGTTATAGG GCCTCAGGGTGCACACAGGATGGCAGGAGGCATCCAAAGGCTCCTGAGACACATGGGTGC TATTGGGGTTGGGGGGGAGGTGAGGTACCAGCCTTGGATACTCCATGGGGTGGGGGTGGA AAAACAGACCGGGGTTCCCGTGTGCCTGAGCGGACCTTCCCAGCTAGAATTCACTCCACT TGGACATGGGCCCCAGATACCATGATGCTGAGCCCGGAAACTCCACATCCTGTGGGACCT GGGCCATAGTCATTCTGCCTGCCCTGAAAGTCCCAGATCAAGCCTGCCTCAATCAGTATT CATATTTATAGCCAGGTACCTTCTCACCTGTGAGACCAAATTGAGCTAGGGGGGTCAGCC AGCCCTCTTCTGACACTAAAACACCTCAGCTGCCTCCCCAGCTCTATCCCAACCTCTCCC AACTATAAAACTAGGTGCTGCAGCCCCTGGGACCAGGCACCCCCAGAATGACCTGGCCGC AGTGAGGCGGATTGAGAAGGAGCTCCCAGGAGGGGCTTCTGGGCAGACTCTGGTCAAGAA GCATCGTGTCTGGCGTTGTGGGGATGAACTTTTTGTTTTGTTTCTTCCTTTTTTAGTTCT TCAAAGATAGGGAGGGAAGGGGGAACATGAGCCTTTGTTGCTATCAATCCAAGAACTTAT TTGTACATTTTTTTTTTCAATAAAACTTTTCCAATGACATTTTGTTGGAGCGTGGAA OMIM ID 600943