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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for CASQ1 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 844 Official gene symbol CASQ1 Full name calsequestrin 1 (fast-twitch, skeletal muscle) Aliases ,CASQ,PDIB1, Gene summary The protein encoded by this gene is a mitochondrial calcium-binding protein located in the luminal space of the terminal cisternae of the sarcoplasmic reticulum. The protein binds and putatively stores calcium ions. The protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq] Location Chromosome: 1   Locus: 1q21 Gene position 160160285 - 160171676  Map Viewer Gene orientation plus Gene size 11392 bp Gene sequence >CASQ1:11648927..11660318:Length=11392 AGGGGTGCCAATTTCAGGGGGCAGCTCCGGTTCCCTCCCCGCCCCCTGCTCCTATTCCTC CACCTGACCCTTTTTCCCTTGGCTCTGTCGGCAGTTTCTCCAGGACCCAGCAGTGCCCTC TGTCCACTGCTCTGGGCCATTCCCCAATCCCCCCTCCCACTTGAGCCCCTAACTCAGAAT CTGGGACCCAGGGGCCCCTCCCTACCCCAGCTAACCTCTTCTGGACCAGGAGAGCCAACC CAGATCCCACTACCTCCATGAGTGCTACAGACAGGATGGGGCCCAGAGCTGTGCCGGGTC TGCGGCTGGCACTGCTGTTGCTGCTGGTGCTAGGGACACCCAAGTCAGGGGTACAGGGGC AGGAAGGGCTGGACTTCCCTGAGTACGATGGTGTGGACCGTGTGATCAATGTCAATGCAA AGAACTACAAGAATGTGTTCAAGAAGTATGAGGTGCTGGCACTCCTCTACCATGAACCCC CCGAGGATGACAAGGCCTCACAAAGACAATTTGAGATGGAGGAGCTGATCCTGGAGGTGA GTTGGGGGCACTGCAGGCCTGCAGAGCATGTCTAGCCCCTCTCCGGAATCCCCTATCCTA CACCCATGTAGCTCTTTGAGGATGGGATCTGGGGGTGAGGGGCAGTGTGGTAGGAACCCT GTCCTGACCAACAGGATGCAAGTGGCATGTGGCTTTAGTCAAATGAGAAACAGAGTCTCA GGAACCCAAAAGTACTATCAGCGTCAGGAAACCTTTAGCAGGGGTGCTGCAGGAAGAGCT CCCCTCCCTGCTATAGGAGGCTGGTAGTATTTGACTTAGGTTTGGCTAGGACACTGAGGG TGAAAAAGGGAGGTACTTGGAGGGCCAGGGGAGAACAGCAGTGTATATTGCACTCCCCTA CCCCACCCATCTGCTTAGCCAGAACACGTCCTCTCCACATACTTCAGGGGCTGCACCCCA AAGAGATCCAAACTGAGTGTAAATGTAAATGTTATGATACTTGCATGCCATGTTTAAATA TCTCCTAGAGATCATGCCTCCCATTGGACTCCCAGTCCCCTCTCTCTTCCTTCCCCCTCC CTAATTCCCCATTTGTCTCCATTGGATAAGCTGGATGCCCTCACTGGAAAATTCTTATGG TTGCAGGAGGTGTCAGAATGTCTTCCCCAATCTTCTTTTTGTGGGAAAAGTCTCCTCACC TCCAAAATGACTTCAGGCCCAAAGGAGAAAGAAGTTATCATAAGAAAAGAAAAAAAACCT ATGTTTGGGAATGTGTTCATACACACACACCTTTAGGAAATGGGATGTGAGTTTTCTTGT CCAAGCTCCTGTGGCCCCTTCTCTGGCCTCAGCTTGTCCAGAGCTTGGAGCATTTCAGGG TGAGACACCAGAACCACAGGCTCTCATTTTGTGCACCCCTGCTGGGTGCTAGAACCTGCC ATCTGATTAATGAGCCGAGTATTTTTATCCTGAGTGCTCAGTATCCCTGGCCATCCACCT GCCAACCGCCTCCCTTCCCCACCCCTCTGAGAATCACAGTACCTGAGTCTGTGCTGAGTG GGGGTAGAGCTGCAAGCTGTGCCCACAGCAGAGAAAATCAGGGTTGAACGCTAAGCTGGA AGGCTTATGGGGGCAGGGACCTCCAGGTGTGACTGTCCACAGCCTAAGGACAGGCTGAAG TAGAGTGCGAAAGGGGAAAGTTGGGCCCTGATGGGGAGAACTGTCCGGTCGCTGTCAGTC TCTCTCCCTCTGGGGGGTAACAAATGGTGACCTCTTATCTCAGCTCTCTGGCCTTCCCCA ACTCCTCAACAACATGACCAGACCCACCACTACCCTCCCACCCTCCAAAATTCTTCCCAT TGGGAGTCACTCTGAAGAATCTCAGGGACTTCCAAGATCAACCCCACACTGAGCTTGGCC CTTGACCAGGGACAGGGACCTCCAGGTGTGACTTGAGCAGGATGGAATGCAGGACTCAAC CCTGAAGGAGGGAAGGGGCCCTCAGTCACTCTGAAGCCAGACTCCTCAGTACCTCTTAGG CACTGGGAAGTATTGAGTGCAGTGTCTTCAAGTCCAACATAATAAGCACATTGCAAATGA GCAATCAATATTCATGAACTAAGTTGAGCCAAAAACAGAACTGTGTGGCTGTAGGGAATT TGGGGGATATTCTGGATCTTAGCAAAGGGTCAAGGTCAACTCTTATATCTCCCGCACCTC AACTGACCCAACTTGAAAGCATGAGAGGGAGAATAGGGGATAATAAAAATTCCAGGGGCT AATTTTAATCATAATCCTTCCCTCCAGTTAGCAGCCCAAGTCCTAGAAGACAAGGGTGTT GGCTTCGGGCTGGTAGACTCTGAGAAGGATGCAGCTGTGGCCAAGAAACTAGGTAAGAGA GGGGAGGGCAGGGGAGGGGAAGGTGGCATTGAGACAAGGGGAGGCTTAGGGCGGAGGACC TGTCAGGCAGTCCTTGGGATCCGAGGGGCTTGGGAATCTCTCAGATTTATGTCTATTCTA AAAGAGGGGGTGAGAAAATATGAGGTTGGGAGGGTTATGGCTCGGAGACTCTGCCTCTCT ATTCCTTATGAAGTTCCATGCTCAAATCCCAGAAAGAGGTGGGGGAGGCCTTCTTTATAC TTACCTTAAAACATGGCTAGGTGCTGGAGGGAAGGGGAGTCGGGGAATACAGGCGGGGCT GGCCAGACCTCTGCAAACTCCGCTTCCAACCCCTCCCATCCAGAGCCATGGTTGTTAGAG CAGTCAGCCACTAGGGGGCAGCACAGGCTTGAGACGGGATTCTGGACATGCATGGGGGAG GGGTGGTCAGTAATAATGAAGTCATCTGGTCAGTAATAGCAATTAAAGAGCTTGACTGGG AACCAGCTACTAGAGTGCTCAGAGGGGGTGGCATGAATACTCATCTCTAGTCGTTGCGGT CAGAGAAGGGGAGAAATACTGCTAGAATCTACACCTCTCTATTCCCTCCCCTCACCCTAC CTGATCCCCCAGCTACTCCCTAGAAAGCTCTGGGGCCACGCTAGCCCCCTAGGCTTAATC CAGGGGCAGAGACCTCAGGCCTGTCGGCCTCTGGGTCAGAGGAGGTGGGTGGGGCAACGG GCCCATGAGGTGGAGCATGTGGGGCCCCGGTGATTATCAAACGGGCTGTGGCCGAGGATT TGGACCTTGAATCTGTGGGAAGCCTGGGATCATGGCTCACTACCCCACCCCTGCGCCCGG CTCACTCCCTAGGCCTAACTGAAGTGGACAGCATGTATGTATTCAAGGGAGATGAAGTCA TTGAGTACGATGGCGAGTTTTCTGCTGACACCATCGTGGAGTTTCTGCTTGATGTAAGGA CTCCCCTGGACCTGACGGCCTTGCTTGAAAACTCCACTGCCTGCCCCCTAGTCCCTACCA ACCCCAACCTGACACTGCACACACACACCACACACACACACATACACCACACGCACACAC ACCATACATACACCACACGCACACACACCATACATACACACACACACCACCTGCATACAC ACCACACATATGCATGCACATGCACACAATAGTTCACAAATCACCTACACACCACACACT ACACATAGGCACCACATGCACACCACACACACTACACACACCACACACACATCATATACA TACCACACACCCATCACACACATATCACATGCACACACACACCACATGCACACCACACAC TCCACACACATCACACACCACATGCACATACACAACAAACACACACCACACATGCACACA CACCACATCCATGCCACGCAAATGCACACACCACACACGCCACACATGTACACACACACT ACACACATGCACACACATCACACATATGCCACACATGCACACAATAGGCCACACATCACC TAGATACCACACACTATGCATATGCACCACATGCACACCACACACACAACACACACCACA CACACCCATCCATACACACCACACACAACATATACATGCCACACACCCACCAGATATATC ACATGCACACACACCGTACATGCGCACACACACACCACATGCACATACATACCTGCACAC CACACATGCACACACTACACACATGCACACACCACATGCACACTCCACACGTACACACAC CACACATTCACACACATCACACACATGCCACACATGTACACAGTAGGCCACACATCACCT ACATACCGAACACTACACATATGCACCACATGCACACCACACTCATACCATCCACACACA TCACACACACATCATATACATACCACACACCCACCATACATATATATCACATGCACACAC ACACCACACATGCACACCACACACTGCACACATCACACACTATACACACACACGCACATG CAATCCCCCACACACACACCCACACACTGTCAACATCTAGCCCCCTCCTCCAGTTCCCCA GCCTTCTTTTCCCTAGGTCCCTTTCTGGTTCTACTTGAGGATAGAAACTCTCTTCCTGCA ATGTCCTCCTCTTTCAGGTCCTAGAGGACCCTGTGGAATTGATTGAAGGTGAACGAGAGC TGCAGGCGTTTGAGAATATTGAGGATGAGATCAAACTCATTGGCTACTTCAAGAGCAAAG ACTCAGAGCGTGGGTAACCCTCAGACTCCACTGTGCCCCTCTCTGGATCCCCATCTCACC TGTCCTCCCACCTCCCCACATCACCCAGTGTCTCAGCCTCTACCTCTGCACTTCCCACCT CTTCCTCCAGCCGTGGTCAGCACCATCAACAGCTCTGACCTCCCTGTACTCTGGGGGTTC CCAGACAAGCACCTCCAGTATTCCACCTTCCCCTCACTCTCGAAGAACTAGAAGGGGTGG GTCTCAAAATGAACCCTGCCTGCAAAGAATTGGGGACGATAGTGGGGGATGATTCCCGGG CAGACCCTGGTTTCCCCAGAGACTGACTCTGCATTCCACCCCCCAGATTACAAAGCCTTC GAGGATGCAGCTGAGGAGTTTCATCCCTACATCCCCTTCTTCGCCACCTTCGACAGCAAG GTTCTCCTCCCCGCAGCTGTATTGGTTCTGCCTCATGTCCTGAAGCTGTCCTCCAGTTTC CTCTCCCAGAATCGATGGCTGACCTGGTCCCTTCCTACGTGCTGGCACTCCCTACCTGCC CCCCCCCCCGGCTCCTCCCACTCCATAGATTTAGAGCTGAAGAGGGGCTTTAGATGATCT AACACCCCTCTCATGTTAAACCCAACCCCAGGCAAGTTAAGACACTTGTCAGGTGTCACA GTGGCAGTGACAAGGATCCCGGCTTTCTGACTCCCTTCCTAATATTTGTTCCCCCATTAT ACTGCTTCTCGACATGACCCTGTGTCTCCTGCTCCACTCCCCTCCTACCCCCTCTCCCAA AGGTGGCAAAGAAGCTGACCCTGAAGCTGAATGAGATTGATTTCTACGAGGCCTTCATGG AAGAGCCTGTGACCATCCCAGACAAGCCCAATAGCGAAGAGGAGATTGTCAACTTCGTGG AGGAGCACAGGAGGTGGGGACCAAGGGCAACCCTCTCAGCGGGGTCGGCTCCTCCTTGGG CTAGAACACACTGTGTGAGATGGGCTGGGGAAAGCTTAGCCAACCGGGAAGCCAATCTTG CCTGGAGATGAATACACTTTGGGCACCAGTGCTCTCTGATACACTGACAATTTTGCACAA TATTTTATACCCCACTACTTAGCCCTGAGCCCTACACCGAGAGGGTCCTTCATAAGTGTG TATAATTCAGTGTGAGGTTGATTGAGACTTAAATAATCTCTGTCAACAAATGAGTGTTGA CTGCCTGTGGTGGGGCAGGAACTGCAAGGTACTTTCCATCTCTATGATTATATTAAGTCC TTTTAACCTCAGTGAAAGTTTCTACAGGTAATAAGTGTCAGAGCTTTTAACCCTGATTTT AACCCTGATGTGTCCCATGTTTGTTCTTTTTTTCTTCTTCTTCTTTTTTTTTTTTTCTTC CGAGACCGAGTCTTACTCTATCCCCTAGGCTGGAGCACAGTGGCGCCATCTTGGCTCACT GCAGCCTCCGCCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGCCTCCCAGGTAGCTGGAA TTACAGGCACGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAC CACGTTGGCCTGGCTGGTCTCAAACTCCTGACCTCAAGTGATGCGCCTGCCTCGGTCTCC CAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCCATGTTCTTTCTAATACA ATATCGTACACCAATGGTTCTCTACAAGGTGGGAAGGCGTGGCGAGGTGGGCATAGGTTT TTGCCCTCCAAAGGATGTTTGGCAATGTCTAGACACATTTTTGGTTGTGCAGAGTGCTAC TAGTATTTAGTGGCTAGAGCCCAGGGATACTGCTAAACATTCTACAGTGCGCAGGACAGC CCCCTACTACAAAGAATTATCTGGCTCCAAATGGCAATAGTGCTGAGGTTGAATAATCCT GCCGGGCACTCACACATAATTCCCTTCCTTCATAGTAGTCCACAGCTGGAAATATCCAAT CACTCTGTCCCCCAGGCTAGCGTGCAGTGGTGGATCACTGCAAGCTCCCTTGCAGTATAT ACAGTACTTACTCTCCCATACTACTGGCTCCCTTCATCAAGGCAGGAACATGCTTGCCTG GTTCAACTGTATGTACCCAGCACCTAGCATAGTGCTTAGAACATATCGGGCACTCAATCA TAGTGAGTGAGTGAATGAATGAATAAATTAATGAATATCCTGATGTCCAGTTCTTGCCTT TCTCCCCCAGTCTCTCTTCCAGTCCCTTTGCCCACCCTCCCCTCTCCCACCGCTTTAACC ATGCAATGAGCCGGGCCTGGTGCCCAGAGTTGAGGCCTTGCCAGATGGCTTTGTTGTAGG CTACAAGCTGTCTGTGCCCTGGGCCTGACCTAGAGGCAGCCTTTGCTACAGGACCCTCTG GAGGGGGCATCCTTCTAACCCACTGAGTAATGACACTCTGTCTGTCTCTTCTAGATCAAC CCTGAGGAAACTGAAGCCGGAGAGTATGTATGAGACCTGGGTGAGTGCCCCTGGCCAGGG TCAAGCCCTCAGGGAAGCATGGGTGCCAGAAGACTCAAGTCCTAGAAAAACCCCACCCTA CTGCTCCTCAGGCCCATTTTTAGAAAAAACAGTGCACTGACCAGCTGGGTGTGGTGGCTC ATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTGAAAATACAAAAAAAATAGC AGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CTTGAACCCAGGAGGCGGAGCTTGCAGTGATCCGCCACTGCACACCAGCCTGGGGGACAG AGTGAGACTCCGTCTCAAAAAAAAAGAAAAAAGAAAAAACAGTGCACTAGCAGCAACTGA AAGATTTCTACACTGAAGAATGTGTGAGGAAATGGGAGACAGACATAATTGAAGATGACA AGGGAAGAGCCTCAAGCCTGGGGATAAAGGGATTATCAGAGGAAGTGTGGGGCCTTGGAG CTGAAAGGAGTGTCACTTGGAAAAAGGTCACCATCACAAGAATATATATGGCCAGGCGCA GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCATCTGAGGT CAGGAGTTTGAGACCAGCCCGATCAACAAGGTGAAACAATGTTGTACTAAAAATACAAAA TTAGCCAGGTGTGGTGGCGCATGGCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAG AATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCTA CCCTGGGGGACAGAGTGAAACTCTGTCTCAAAAACAAAAAAAAACAAACCCCAAAAAACG AAAGAATATATCTGGTCCTGAAGCTGGATTTCCACAAAATTGAGGTTCAATGAACATCTA GGATCTGTTCTGGGCTCCTCAACTTCAGGGAGTATAGTAAGGTCTTCTCCAAAACCCTGT TCTCCTTCTTACCCCCTGACAGGAGGATGATATGGATGGAATCCACATTGTGGCCTTCGC AGAGGAAGCTGATCCTGGTGAGGGAGGAATACCGGGTTGGACTGGAGGGAAGGCAGGGGG AGGTGGGTGTGTTTATTGGAGCATGGGCCTCACTAGGAGGCTTTCCTGGGAGTTTGCAAA CAGCCTAGGGCTAGACATGTGAAGCTTGGGGAGCAGGGAGGTAGCTCTGCACTCCTGTTT CACCTGGGTCCCTTTCCTCTCTACACACCTCATACCTTGTACTTGTGTTCCCTCCAAGAT GGTTTCGAGTTCTTAGAGACTCTCAAGGCTGTGGCCCAAGATAACACTGAAAACCCAGAT CTTAGCATCATCTGGATTGACCCTGATGACTTCCCCCTGGTAAGAGGCACAGCTCAGGCA CTGCTATCTTAAGGTGGGGCCTTGGACTGTGACATCTTCTTAGTGAGGGCTTTGTTTCAG AGGTCCCATCCCCACCTCCTAGCTGGGGGGCCCTGGGAGGGTATGCGTGTTGCATGCTTA AGGGCACTGTTGGCATGGAGGGCATCCTGAGCAAGGGGAAACAGGACGGACATCACACAC ATTCCCAGAGCAGAGGCTGGATGGGTAGCTCAGGTGCTAGGGCTGACTCCTAAAGAAAAC CAATGTTGTGAGGCACAATAGTCCTGCACATGGGTATACACACTCAATCATAGAATCATA GCACAGAGATTCCCTGTTTCAGGAGATGATTTTGTTCTCAGCTACATTCCCAACACCTAG CACTCGCTGTTGAATGAGTAACTGAAAGAACAAAGAGAAACGTGAGAAACATTGGCACTT ACCAGGTATACTTGCCTTATTTTAGAAATGTAAGATCTGAGGGCCAGAGAGAAGTGACTT GACCTTGAACACAAGGATCTGATCCAGGATCAGAACAGGGTTTCCTATCCAGTTTTCCTC AGAAAAGAGGGGCCAGTGCACCCAGCTGACCCTCCCGATTCTCTCCCTTTAGGATTTCTC CTCTTTTGTTGTTTAGTTCTACCCTTGCCTTGATGCCCTCACAGGTGGACCTGTCCCCAT CCACTGCCAGTTCGCACTGTCCCCTCTCCATCCCTGGGCTGACCCTCACACTCATCCTCC TGGATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGG TCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCA ATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTACTTCCTAG CATAGCTAGCTCTCCTCCTCTCTGCTAACTAGGAGTTGGGCCCTTCTCACAGGACGCAGA CATGCCCAGTCTAGTGGCTGGATGGAGGGGGAGACTTAGGATCTGAATGTGGCCCTGTCC CACATGTTGGAATCAGTGGCTCATCCTTCAAGGCCCAGTTCAAATTCTTTCTCCTCTGTG AAGTCTTTCCAGATCTCCCATTTAAAATCATTCCCTCCCTGGCACTCCCAGGGCTCAATA GCCATTGAGAACATGACATTTAAATGGCTATTTATGTATTATGTGTGTCTCTTCCAGTAG ATTTTTGAGCTTGTTCAGGGCAGAAGTCTTCTTATGCACACACAGTAGGTGCTTCAAAAC TGCTAAGTTGAACTGAATGAGCCACAGTCTCTGCTTTCATAGAATTCTCAGACTAATTAG AGAGGCAAGTGTTCCATTAACTACAAGGCCAGATCTGATAAACTTTATAATAACGATACA AATAAGACACAGGATCACATTGATTTCTGCTTGACAGAATCAGAGAAAAGTTTAAGAAAA AGTGATATTCAAAATGGAGATTCTACAATGTATACGATTTCAACAAGTGATGATTCAGGG AAGTCATTTCCAAACTGAGGAAAAAGCAAGATCAAAAGTTAAAAACAGGAAAATGAATAT CAGGTTCCCGGAAAAGGCAGGTGGATTTTTATGGTTGAGAGTCTAGAGATCACTGAGAAT GGTACTAGAAAAGCAGGTTATGAAAAGCCCTGGGGCCAGGGTAGTGGCTCAGGCCTGTAA TCCCAGCATTTTGGGAGGCCAAGGTGGGAGAATCACTTGAGGCCAGGTGTTCAAGGCTGC AGTGAGCCATGACTGCCCCTCTGCGCTTCAGCCCGGGCAATAGAGTGAGACCATGTCTCT TTTAGAAAAGAAAGAAAGAAAGAAATGTCCTGAATGCCGAAGAGTTGCTAACTTTATTCT TATAAGCCATGAAGAGCTACCAGTGGTTTTGCACCAAAGGCATAATAGGGAAGTTCAGTG TGGCAAGAGCACGGGAGACAGATTGAAGGGAGAAGGTCTATTTGCCAATCCAACTTTTCT TCCCACTCTCACCTGTCACTATTCTAACCCATAACCCATACCTTCACCTGGACAGTTTCC CTGGCCTTTGGCAGATGAAAGGAAGGGACTGAGAATGTAGGGAAGGATGTACAGAGTCCA GTGAGTGGGAAGACAGATCCTAAGACCCGGGTTGGACTTAGCTTCCGTCCCTGCCTGTGC CATCTCCTAGGCGGATAGCGTATGGATGGAAATGGACGATGAGGAGGACCTGCCTTCTGC TGAGGAGCTGGAGGACTGGCTGGAGGATGTCCTGGAGGGCGAGATCAACACAGAGGACGA TGACGATGATGATGATGACTAGTTGCTATGGCAACCATCTTTCAGCCCCACTGGTCTTTT CATGCTCTCTCCTGCCTTCCCTTGTCCTTCCCTGAGTTCCTCCAGGGAGACTAGGTTATT CTCTGCCATAGAGCTAACTGGGGTCTATATGCTGGGTGCTGAGACACTGATCCCCCTCAT TTGATGAGCAAATGAGCTACTTTTCCCTAGACACCAGGCCAGCTCTCTCTTATCTGACTT CTGTTTCTTATCCCATAACTTACTTGTATCTATTATGTGTCTCTTCCATCACTCTCCATA CTCTTTCTTGTGATTCTCCTCTAGCCATATATATGGGCCCCATCTCTGTTCTGTTCCCTC CATCTATGCACAGCTTTCCCCCACTCTCTCTAATCCTGTATCTTTCTGACTGTCCTGTCC TTGGCCAGAAGGAAGGGAGAATACTGTGTTTGGGACTGTATCTCAGCAATCACTTGTTAA TGTATTTGGGTCAAATGAGAGGCCTCAATAAAGACATCTGGGGCAGCATGAA OMIM ID 114250