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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for SP6 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 80320 Official gene symbol SP6 Full name Sp6 transcription factor Aliases ,EPFN,EPIPROFIN,KLF14,MGC119662,MGC119663,MGC119664,MGC119665, Gene summary SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM] Location Chromosome: 17   Locus: 17q21.32 Gene position 45933240 - 45922280  Map Viewer Gene orientation minus Gene size 10961 bp Gene sequence >SP6:complement(11196432..11207392):Length=10961 GACTCAGATCTCACCTCCTACCACTCCCCTAGGAGAGCTGGGGGCCACTGTTTCCTGGAT TATCCTAAAAGCTTCTGAGGCCGTGAGGACTTGGCAGCATCCCTGCTCCCTCCTTCACCT CCCCCTTTGGCACTGCCTGTCACCTCCTTTATAAAGCCTGGCTCTTTTATCACCGCCACT TGGCCCTCACTGCCGCCGCCAGCTCTGGGCTCCATGGACTGGTAAGAGAGGCTGTTCCCT GTCCAGTACAGGGGACCTCCACAAAGAGGATCAGGTCTCCACTCTAAAGTGGGGGTCATA GAGAAGGGTCTGGTTCTCTCTGAATTGGGAAGGGGGAGATAAGAGGGAGATCTTGGTGGG GTTTGCATGGAGAACTAAAGGGATCCCTTGGAGGTCTTTTGACTGGGCTGGGGTAGTCAG CCCAGTGGAGAAGTGGGGTAGGGATTCATAGCTGGGAACTTTATTTCGAGAGAAAGGAAG GGCAAATAAATGTTAATAGAAATACAGGGCACACACACTCACTGCCCTGAATGACAGAAC ACCTGCAAGGATAGTAAGGGAGAAACCACTATCCACATCCTATGGGGAACTGCATTTACG GTGGAGGAGAGAAGACACCCTACACTCAAGCCCACAGGTACACACAGGCATAATATGTAC ACACATTTGTAGATATACACACACCGACATACAGATGCACTATCCTCAGGTGGGTTCATC TTCTAGACTGAAAAGCGATGGTGGTAGCTAGGGATTTTGAAATTTATAATAAAATTAGTG TCCAGCATTGTGCTTGGCCTTAAGTAGACCCTCGATAAGTGTTTGTTGAATGAAATAAAG GATGAATGAAAGAAAACTATTTGACCCCAGCTTTAGGCTCTATCTGGTTTTCTAAGAATC AGGAGAGTATGGTGGGGAGAGGAGGGGAAATAAGGAATATGTTGGCATCCAGGGTCATCA GCTTGCAGGCTTGGAAGTGCAGCCCGAAGGTGGGAGTGGGAAATGGAGGAGAGGAGTGAG TGAGAAGAGGAAAACAGGACCAGACTCTGGTCTGGTCCCAGCTCTGCTTCTAACTTGCTA CTAACGTCCCTGTTTTGGGGTTTGGTTTCCCTACCAGTAAAACGAGGGCTTGGACGAGAC AATTTGGGGCTAGACCAGCTTTGATATTCTCATAGTGCAATCTCTACAGGACAGTTGAAG TTTGGAAGGGATCACAAGTGTAGAGTCTGACTTGTCTCAGCAATTCAAGATGGGATCAGT TTGTCCATTAGACTCAAGATAGGAGATGGCTTTGATCTAGGGATTCATTTAAGAATGCTG TTTCCTCCACCTTCAGGCTCTAGGGGAGCCAGACTTCCAGGGTCATCAATTCTGCCATAT TGAGGCCAGATGGACTAGTAGGCAGAATACAGGCTTTGGAACCTGAGAGATCTGAACTCA GTTTCTTCTTCTGTCTTTTAACAACTCTGTAATCTTGGGTAGATCATTTAACTTCTTTGA TCTTTGGCTTCCTCATCTGTACAACGGGAATAATAATAATTACTTTGCTGCATGCCCATG AGAATTAGAGATATTTGTGTAAAGCATCTGGAACATAGTAGGTGCTCAGTAAATAAATGC CGTTTGTGATAAACACGCAGACTAATGAGATTTCTCCAGGTACAAAGTGGATCACTGACT ATAGATGAAGCTTGAGAAGAAGAGGGGTGGCAGGAATGGGGGTTGGACACTTGCAGGGGA AATCTGACTATTTATTTGAGAGAATGAGGAAGAGCAGCAGAAATGGCCCAAGTCCAAGAC AGATCTCAGTTTATACAGGAGATGTGATGGGCTGTGTTGTTCAATTTTGAGTAGCAATAA GTATATGGGCAATGGGCTGTGGTGACCTTGCTCATTAAGTTAACATCAGACCATGCGCCG TCATTCGGTGGGAAAACATTTAGCAAGTGGGAAACCAAAAGGGCTGGAAGCAGAGGACTG CAAGTAGAGGGGGACTGGAGGAAAGATAGTGCCAGTACCCTGAGTGAGCAGCAGAAACCT AGGCAGAGCAGGAAATCAGAATGGCTGGGAGTTTCCAGAGACAACTGCATTGTTGTTGAA TTTCCTGCTGATGAGCTGCAGGCAGATGGAGGGTCTTTGCTGGTGGAATTCCAGATGGCT ACAGGTCTGGTTGGATCGGGGCAGGGCTAAAGGGGGCCTAGAGTGAAAGTAGCAGGGAGT GTCTACCATCCTCGGGCTGAATCCCTGTTGCTTTCCAGGGAAAAGGCAGAAGGGGCCAGG AAGAGAAGGCAATCTGATGCCTATAAATGGGAGGGGAACTTGGTCCCCTACCCAGAGTCA GACCCCTGCACAGGCTTTAGCACCTTAGGAACAGTAGATGCAGCACCAGCAGGCAGCTTG GAGGAGGAGGCAGGAATGCCCAGAGGTCAAATCAGGAACCAGAGTCCCCCACTGGGGGCT CTGTTTTGGACCTGATGAGTGTCTACTCCATTCCAGAGGTAGCTGTGAACTAGGATACAA ACCCAACTGGCCAGGATTTGTAGGCTGAATGGATGGAGACAAAGCTGCGTTGATGAAGAG GATTGATTGTCAAATTAGCCATGGCCACAAAGATCCAGAGCAGTTCCTGTGAATCCACAT CCAGAGCCCCAAGTAACAAGAAGGCAAAAAGCAAACCCCGACTGATCAGAAATCTCAATC CCCCGATGTCAGGCGGCATCTCCGGCTTCCAAATACCTGTCACTTCTCTAGCTTGGTGGC TGCTTTTACAGCATTTCACCAAGGAAGAAACTGAGGCTTAGAGGCACCTGACCTGCCAGG GTCAGTTTAGCAAGTGCAGGGCTGGGGCTAGAATTTAAATCCGTCAACTTCTAGTCCACA GGTCTTTGTGCATACACCTTAATCCAACCAATATTTACCTGGAACTGACTTATTTAATAA TTATAACAAGGATATCTTCCATTTACCCGGCGCTTACCAGGGGCCCCTTGGGCTAAGCAT TTTTAGGCATATCAATTCCTTTAAGCCCCCAGGAGACCCTACCAATGTGTACCCAGGTTG TCCGGATGAGGGAAATGAGCCTTAGAAAAGAGGGAGATGCACAGATGAATCCGACGTCGA TTCTGGATAAGAACGTGTGCGTGTCTGAGGGGTACCATGCACATACGCATACACACATGG ATTGATTTTCACCCCGCTTATGCACTCGGTTTAGCTATTTTTGAGTTACAGTTTGAGTGT GTCCCAAACGGGCATGCAGGACAGGTAAACCAATGGCGGGGGGGAGTAGGGGCTGTAGAG GCGAGATTAAATCAGCCTAAATTCAAGTATGAAATCGACTGTAAAGAGGAAAACGAAATT TTAAAAAGCCGACGGCAAAGCGCACAGAGGAGACGAATCTGAAAAATGAAAGAAATAGGG AAATTAATCTGCATTCCCCTGTGAAAAAAGGGGTCACATGGAGAGATCAACACTGCGGCA TGGGAGTGAAGCATGGGGCCACCTCAGCGGCCAGGCAGAAGAATGCGTGGGTGGAGGACG GAACTTCCCTACCCACCGGTGCTTTGCGGGTCTCGGAAATGTCGACCCATCCAGATCTTG AGGGAAGTTTTTGTGAGCTCCGCGAGCGCGCTGAAATTTTACCAGAATATTGCACTGGGC ATGTGAATTTTTCTCAAAGGAATCCAAGACCCCTCCCCAAAGTTAAGAACCTTGGGTTTA GTTATTCTGGTGAGAATTAGAAAGGAATGGTGGCAAGGGATAGCTCAATTCCTTCCAGAA GTGTCCCTTCCCAGGGCCATTCAGGCGCCTGCCCATTCTTCAGAACCGGGTGCTCGGGGG CGAGGGTGTGCGTAGGCTGAGCATTTCCCGAAGGACAGGAGGGCGAGGAGAGGCGAATTT GAGAGGTGGATTTCTTAGGCACTGGGGTTGCTACCTAAGGGGAGGGGCAGAGTGACAGCT GCTGGGACCTGGGACCAGAGTAGGGGGGAAGCAGAGACCGGTGGTGGGCAGAGGCTGGGA GAGGGGAGGAGAGGAGGTGGTCACCCAGAAAGGTCAGAGAGGGATACCCCGGAAGGGAGA GGGAAAAAAGGACGGGGAAGGGTGGTGGTGGAGAGAAGCGGCGCGGGGTGCGGGGGGTGA GGCAGGGCAGGGGACGGGGGTCGGGGGTCGGGGGAATGGCGAAGGAGGGCAGCCAAGACA AATTTCACACGGCCTAGGCCTAGAGGCGAACTGGAAACATACTTGGCGCTCAATCTTGTT TCCTTCTTTCCTCCCAGTTCCGGGGCAGGGCTGTCCGTTCAGAGAGGGTCAAGGGCCATC GAGGCAACCTAAGGGTTGCTGCCTAAGGGTGGCTCTGTCTCACCCCCAGGACCTGCCCCC TTATCCATTCCCCCTGGGTCTTAGTCCTGCGTCCTCTGCTAGACCGAGCTAGCTCCAGGG CAGTTTTCCACCCGGCGGGGCGGGTCTTAGAACCTGGGAATCACCCCACCCGGGCCCCTC TCCCTGGGAGTGGAGGGGACCAGGGAGGAGCGAGGGAGCGGGCGGCGCACGCCCTAGTTA TCTTTCCTCCCCCACTCCCGCCCACCCCCTCCTCGCGGCCCTGGCTGGGCTCCGGTCCAG CCGAGCCCTCAAGGGTTAAAGGCGGCCGCAGGTGAGGTGGGCGGGGCCGCGAGTCCGGGG GAAAAAGCAGCGCTGGGGAGAGGATGAAGGCAGAGAGCGCGGGTGAGTCACGGGCGGAGC TGGCCTTGTTCGCTCGCTGGCTCCTGCCCGCCCTCCGTCCTCCGCCCTCTCGCCAGCGCT CACCTCCGCCGCCTGCCGCCTGCCGCCAGCCGCCGGGTCTGGCTCGCCCTGGGCTCCTGC CCCTTACCGCTGGAGAGCTCGCCGGCGCACAGGGCCTATGAGCGACCGTCAGTAGCGCAC CAGCCAGCCGTGCCCGGAGCCCGCCGCAGCCTCGAGGTAGGAGCGCGGGTCGGGGTGGCC AGGGGTGAGCGCTACGGAGATTGTCTCGAAAAAACGCACTCCGAACGCGCCCCAGCCTCC TATGGCCTTGGGAGCGGGGTGGTCCTAAAGGATCTGAGAGGTTAGAACCCCGATGGAGGG AAAACTGGGCGGACGGGAGAGACTGGAGGGACCGAGGAGGCTGGAAACCGGGGCAACTGG AGCGACTGGGACAACCAGAGGACCGGGACATTGAGAACTGGGAGTACTAGCCGGTGATCC AGAGAGGCAGAGCCGAATGGGGCATAAGGGTGCACCGACTTGCCTTCCCACTTCGGGGAG CGAGAAGCCTGCGATGTACGCTGTGCTCTCTCCTTTCCTGAACTCTTTCTAGGCCTGGAA GTGAACCGGACACATACTTGGCACTCAATCCTGTTCCCTTCTTTCCTCTCAGCTCTGGGG CAGGTGGGTCAAGGACCATAGAGGCAACCTAAGGGTTGCCACCTAAGGGTGGCTCCATAT CACCCCCAAGACCTGCCCCCTCCTCTATTCTCCTGGGTCTTAGTCTTGCATCTTCTGCTA GACTGAGCCAGCTCCAGGGCAGTTTTCCACCCAGTGGGACTGGTCTTAGAACCTGAGAAT CACCCCGCTTTGGGTTTCTGAAATCTTGGTAGCAGGCCATTGCATCCCAGGCCTGGGCTC TCCAGCTCTCTGCCAGGAGAAGCCACTCTGGAGCCCAGATTATCCTAGCCTTCCCATCCT CCAGCCCCTGGGGCAGTTCCCAGGCACCAAAAGCTGTTAGGGTCCCTGGCTTCACAGCTC CCGCTCAGCCCCTTCTGTGCTGCCCCACCCCGGCCTGGGGCTCCTTTCCTGCAACTTCAC CCTGTTTTCCTCTTGTGGTGAGGCAGCCGGAGCCTGAGTAGGTGCCCCCGTCCTCCTCTC CCTCCCTCTCCCAGGCTATCAGTGCCACCTCCCTGGTCCCAGAGGCAGGAGATGGTAGGG TCAGCTAAGCCCTGCTGTAGGAAGGAAACAATCCTGCCCTAAGTCACTGGTCTCCTCCCC CACCAGTAGAGAAGACCCAGGCACACAAACCTGCCCAGCTGAGGCACCAGGGCTTCCAGG CCTTAGGGAGAGGTGGTGAGAAAAGAGTGAACTTCAAGCCACAGATATGTGGTTGAGAAA GCGTTGGGGGTCTTTAGCGTTCTAAGGGTCTACAGAAAGATTGGTTTACAGAAAGTAACA GACTGAGAGTCCAGGAGTTAGGAGACCTGGTTTATTGAATGAATAAATGAACATCCTTGT CCAAGTCACTGTGCCAAGTCATTCAGTCTGCTTCCTTCTCTTCAAAATAAGAAGATTGGC CTGGAGCAGTGGTTCTCAACATTTGCTGCATATAAGAATCTTCTGGTGGTGGTGGGGAGC TTCTGAAAAATGATCCATGCCTAGGATGCACTTGCTTATGTCATCTTTTTGGGCAATTCT TGCTCTTAGGTTCTGTGGTTATGACTTCTCTTGTTGCCCTCCTCTTCCTGCACTCTGACC TTGTATCACTTAAAGGGGTGCAATTGTATCTTCCAGAGCTTGCTGTCAAGCTCTTCTCTG GGGAAGCCATTCCCTCCCAACTTTCTATCTGGGCCTCCCCTAGCATGGAGAGGAAGATGG GTAGCAGTCAGAGAGTTGCCTGGCACTGGTATGAGTCAAGAGAGGGATGGAAATTTGGTT TTCTCTGGTGGGGGTATCTCCCAGATTCCAGGGGTATCTGGTGGCCAGAAAGCTGCTCCC CAGGGAGGTGAAGTCCCTGCTTGAGGGAAGGGGGTGGGGGCATGTGAGTCGGTTTAGTGG GCCCGATGTGACCAGGCCAGGCGGGGAGCAGCGTAGACGGTGAAATGCTTTTCATTACTG AACATGCTTTGGGAATGGCATGAGAACTCTTTCAAAGACTCAGGACCCGTTTGAGGCTTT ATGAGGGGCAGGTCACCTGAAGCTTTGGGTTTCAGAAATAGACCATCCCCTCTCCCATCT GTATCCTGAGTTAAACTGGGGAAGCTGAGATGTGTCTAGATCCTCCATTTGGGCTGACAG CAGGTCTGCAGGGGGAAAATGCCACTGCCCCTTGTGTTGGCCTGGGCAGCTGGGGTGGGG ATGGTTCTAGCACTGTGCTGTAGGTGTATCTGACCTACCATCCTGGGAGTGGCCCAACTC TAGGGATGAGCTGGGTCATACGGCAGGGATCACCCAGAGGAAGGTAGACCTCCATCATCC TCTGTGCTTGGATGAGAACCTCACATCTTGGACCCTTCCTCGCACTCCCGAATTCTCTAA ACTCATCTCTAGTCCTCGTTCAGAGGTGCATCCTTCTTTTACACCTGGGGCCAGAGAGGA GGACCTGGGTTAGGAGGGAAAGTGAGCTGGTTATTTCCCTTACTTTTCTGCTTCTTCGCC TCCTTTAGGTCCCGTCTGAGGTGCCCCTGACCGTCCCTGCCCTCACCCCACCCCGGATCC CGGCAATGCTAACCGCTGTCTGCGGCTCTCTGGGCAGCCAGCACACGGAAGCGCCGCACG CCTCCCCGCCGCGCCTCGACCTGCAGCCTCTCCAAACTTACCAGGGCCACACGAGCCCTG AGGCCGGGGACTACCCCTCCCCGCTGCAGCCTGGAGAGCTGCAGAGCCTCCCGCTGGGCC CGGAGGTGGACTTCTCGCAGGGCTATGAGCTGCCAGGGGCCTCCTCGCGGGTAACCTGCG AGGACCTGGAAAGCGACAGTCCCTTGGCCCCGGGCCCCTTTTCCAAGCTCCTGCAGCCGG ACATGTCACACCATTATGAATCGTGGTTCAGGCCGACTCACCCAGGCGCGGAGGATGGCT CGTGGTGGGACCTTCATCCGGGCACCAGCTGGATGGACCTCCCCCACACTCAGGGCGCGC TGACCTCACCTGGCCACCCGGGGGCGCTTCAGGCGGGCTTGGGGGGCTACGTCGGAGACC ACCAGCTTTGTGCCCCGCCACCCCACCCGCATGCGCACCACCTCCTTCCAGCTGCCGGAG GGCAGCATCTCCTAGGGCCGCCCGACGGGGCTAAGGCCTTGGAAGTAGCCGCCCCGGAGT CTCAAGGGCTGGATTCCAGCCTGGACGGGGCGGCGCGTCCCAAAGGCTCCCGGCGGTCGG TGCCCCGCAGCTCAGGCCAGACCGTCTGTCGCTGCCCCAACTGTCTGGAGGCGGAGCGAC TGGGGGCTCCATGTGGGCCCGATGGGGGCAAGAAGAAGCATTTGCACAACTGCCACATCC CGGGCTGCGGGAAAGCCTACGCCAAGACGTCGCACCTGAAGGCGCACCTGCGCTGGCACA GCGGCGACCGTCCCTTCGTGTGCAACTGGCTCTTCTGCGGCAAGCGCTTCACGCGCTCGG ACGAGCTGCAGCGCCACCTCCAGACCCACACCGGCACCAAGAAGTTCCCCTGTGCAGTCT GCAGCCGCGTCTTCATGCGCAGCGACCACCTGGCCAAGCACATGAAAACCCACGAGGGCG CCAAGGAGGAGGCGGCTGGGGCGGCCTCGGGAGAGGGCAAGGCCGGCGGCGCAGTGGAGC CCCCCGGGGGCAAAGGCAAACGCGAGGCCGAGGGCAGCGTGGCTCCCTCCAACTGAGCTC CTCAGTGCCGCCTCCCTGCGGGTATCCCGGGGGGCACTGGATGCGAGCCCCCAGGTCTGA CGTCCTTGGGGGTGGCTTGAGGAAGAGGGGAAGGTGCGTATTTATTCAGGGAGGAGGAAA AGTGGTGCAGGGACAGGGAGATGGGGCGCTAGGGGTTCTTAGTCTCTGGGGCTACTAGGC AGGATGAATTTGACTGGGTCGGTAGGAGCTGCGCAATGCCCCTCTGTTCTCCCCTGCCTC ACAGTTTCCCTCGCCCCTGGGCTGGGGGGTTGGGGTGGGACACCCGTACCGCGGCTGGCT GGCGGGGACAGGCTAGAGGAGACAGCAAGTCCCAGTCCCCGGAGCAGAGAGAAGTGGGGC CGGCCCGGGGCGCTGGTGGTGGCTGTCTGGACACGTCCTTAGCGCCTGGGAACCAGGACA TAAAAGCGCCTCCGGAGCCGCCCTGCGGCGGGGTCCCTTTCATCCCACTTAAAGTGCTTC TGCCCCTAGGGTTTCCGGAGGGAGAGCCGAGATGGGATGGGGGAGCCTGGGGGTCCCCCT TGGCAGGGGTGTCTCTTTCTGGTTTGGAGGGTTGTTGCTGTAAAAATAACTCCTTTGATG AGCTTCCTTATTAACCCTTTCAGACCCAGTCTGTTGGAGCCATGAAGGAAGAGGGAAAGA GGGCTGCCATTCCTGACAGCCTCCCAGCCAGGGCTGGCGATAAAGGACCGAGATAGATGG AGGGGGCGAGTAGGGAAGTCCTCTTCTAAAATGAGAGATAGGGATTTGGTGGGGTATGGA AGGAACTAACCCCTTCCCTCTCCACCTCTGATTCAGCCCTTAATTCTTGGTCTATGATAA ATAAAGTTCAGTAGTCTCACATTCCCCATCTATTACCCTAGGTGTGTTTTCAAGGCAGCC AGCGGTAGAATCCATGTAGTTCCCACCAGTTGCCTTCCCCTCAGGGATGGAAGGAAGAGG GTTTCTTGGGCTGGTTGAGGGCAGATTGGGGGTGTCTCATCAGAGGGACCTCCACTGGTT CCCACTCAGAGTGGAGGCCTGCAGCCTACCTGACCATCTCTTTAGCTGTCACCAAGAAAA TAAACCCCACTGTCTCTCTAGCTTGGCCCTTGTCTTTCCCTTGCCCCTGCCATAGCATGT TCATTAGGGGATTCCTTCCTCCCCCTCATCTCACAGGGGAAGGGAGAGGAAAGAGTTGTT CTCCCACTGGAAGGGGTTCTGCCTTCTGAGGTGACATCCAGGAAGCTGTCCCCATTCCCT TCTCCTTTAGATGCTAGAAACACATTTTGATTCTGATCATGGGGTGGGGGAGAGAGGAAA GGAGGGAGGGGAGAAGCCCAGCAGAAGCTGAGCCAGGCAGAGGGGAAAGAAGCTGATATG AGGAAGGGTCTGACAGGCCACAGCCCTTGCAGCCGGAGGGCTTTCCCACACTCAAGAGAG GGGCCTTACAGTCCCTCTGACACCCCTCCCCCTTCCCCTCGCTCCCTTTCTTCACCCGGA GCCCTCTGCAGAGATTAGCTGTGTATTGATTTTTAAGTTATAAGCAAAGGGTATTTTATT TAATATTAGGTTATGTGTGTGCATGTTGTGTGTACCTGTGTGCATGTATGTGTGTTTCTC TACTGAGCCTGGGGTCTCTAGCCAGGGAGACCCCATCTTATTCACCATGTCCAAGATCCT GGGATCTGGGCCCAGCATCTCTTCCTCCTTTGTAGATGCTGGAGCCCAGCCAAGGTCTGG GAGCTATATGGGAAGTGGGGGCTGGGATCTGGGTGGGAATATGTGTTTGTATACAAAGGG GCCCTCCTTAAAAGGGACAGGATGACCTTCCCGAGGAACTCATTGGCCTGGGGTAGTTTA AGAAGTAATGTTCTTTCTTTCTTTCTCTTTTCCCTACCTCCTGCTAACCCAACCAGAGAT CCCCTTCCTTGCTGAGAGGGTTGGGGGCAGGAGGAGATTTGGCAGTGCCTGCAGGTTGCC TGGCCAGGTGGAGAGGGGGAAAGAGGAAGGGCACCGTGGGTGTAAGATGCCTTTCTCCTC CACCCATCGAAACCAGCCACCCCTTCCCTGTGCCACCAAGACAGCCTTTTCCAGTGGCCA TCCTAAGGGGAACTCCCAAATGGGTGTTGCTGGTGGACACAGATGCTCCCCCCAATGGAA GCCCCAAGCTCTGAGGTATGCGGGTAGAGGCTTTGGATAGGTTTTCTTCTGCTCCCCTCT TTTATAGATCTAGGCTGCTTGGCTGCCTGTCTTTCTAGGCAGTCCCCCTAGAGGAAAAAT GTAGGAATTTATTTTTTCTTTAACTGCTGTGAACTCACTTTGAGGGGGTAGGAGGAGGGA GAAACAGCCTGTGTTTTTTATGCAATAAAGTCATCAACTAC OMIM ID 608613