Home

Search

Browse

Statistics

User guide

FAQs

Links

Questions

Contribute

Download

Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for COG8 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 84342 Official gene symbol COG8 Full name component of oligomeric golgi complex 8 Aliases ,CDG2H,DOR1,FLJ22315, Gene summary This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq] Location Chromosome: 16   Locus: 16q22.1 Gene position 69373526 - 69362524  Map Viewer Gene orientation minus Gene size 11003 bp Gene sequence >COG8:complement(22976723..22987725):Length=11003 TTCTTCCTGTCCTAAGTTCGGAGTCAGCGCCCCTTGTGGTCCGGAAGGGAAGTGACGTTG TTGCTGGGAAGATGGCGACCGCGGCGACTATCCCATCGGTAGCCACGGCCACAGCAGCGG CTCTCGGCGAGGTGGAGGATGAAGGGCTCCTGGCGTCGCTGTTCCGGGACCGCTTCCCCG AGGCCCAGTGGCGCGAGCGGCCCGATGTGGGCCGCTACCTCCGGGAGTTGAGCGGCTCGG GGCTGGAGCGGCTGCGGCGCGAGCCCGAGCGCCTGGCGGAGGAGCGGGCGCAGCTGCTGC AGCAGACGCGCGACTTGGCCTTCGCTAACTACAAGACCTTCATCCGCGGCGCCGAGTGCA CCGAGCGCATCCACCGCCTGTTTGGCGACGTGGAGGCGTCGCTCGGCCGCCTGCTCGACC GTTTGCCCAGCTTCCAGCAGAGCTGCAGGTGCGACGCGCCTGGCGCTAAAGGGGTTTTAT AACTGTAAAAGCTGACATTTACGATGGTAGAAATAACTAACACATAAAGCGTTTACCACG TTCCAGGTTCTCTGCTGAGCGCTTTATTAATCCATTTAAACCTCACAACAGCCTTCGAGA TAGGTACTGTTATTCCTTTTTTATCTTTTTTGAGACGGAGTCTCGCCCTGTCGCCAGGCT GGAGTGCAGTGGCGAGATCTCGGCTCGCTGCAACCTACCTCTGCCTCCTGGGTTCAAGCG ATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGACCATAGGCGCGCGCCACCACGCCCAGC TAATTTTTTTGGATTTTTAGTAGAGACGGGGTTTCAGCATGTTGGCTGGGATGGTCTCGA TCTTTTGATGTCGTGATCTGTCCGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGCATAA TCCACTGCGCCCAGCCCTGTTATTTCCATTTTACATATGAGCAAGTCAAGACAGAGATTA GTGACGTCCAAGGACACAGCTAGGAGGTTTCGAATTCAGAACTGGTTACCCAGAAGCACG TCCCTCCCTCGAAGGGCAGTTGTGGGCACAAAGAAAAAGGATTCATGCAAAGCTCTTATT ATCGGGTCTGACACAGTTAACATTATAGGTGTGAGCTGAATATATGTGCACATTTATATA CTTATTTTATACGAAAGCGTGGACCGGAGGTCATCTGCTTCAAAACTTCCATTGACGGGA AGGTGACAAGGAAATCCTCGCATTTGAGGGCATCAGATATCAAAAAGTCTCTCCATTTGG ATGGCTGGATGTGGTGGCTCAGCCTGTAATCCCAGCACTTTGGGAGCCTGAGGCTTGAAC CCAGGAGTTCGAGAGCAGCCTGGCCAACATGGCAAAACCCTGTCTCTATAAAATAAAAAA TTAGCTGGTCGTGGTGGCGTGCGCCTGTAGTCCCAGGTACACAGGAGGTTGAGGTGGGGG GGTCAGTTGGGCCCGGGAGATTGAGGCTGCAGTGAGCCATGATTGTGCCACCGCACTCCA GTTTGGGAGGTCGAGGCTGCGGTGGGCTGTGATTGTGCCACTGCATTCCAGACTGGGTGA CAAAGTGAAACTCTCTTAAAAAAAGAAAAAAAGGCTGGGTGCGGTGGCTCACACCTGTAA TCCCAGCACTTTGAGAGGCCAAGGCAGGCGGATCACGAGGTCAAGAGATCGAGGCCATCC TGGCTAACATGCTGAAACCCCCATGTCTACTAAAAATACAATTAGCTGGGCGTGGTGGCA CGCGCTTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCTGAGAA GCGGAGGTTGCAGTGAGCCAAGATGATGCGTGCCACTGCACTCCAGCCTGGTGACAGAGC AAGACTCCGTCTCAAAAAAAAAAAAAAAAGTCCTTTGTGAGTCATATTCTGTCTCCATTA TCCCTAGTTCTGCCTTCCAGCCTTTCATGATTAAAGTTTAATTTTTCTTTTGAGCCTTTG GATATTTGACAGCAGCTTTTGTACCCTTCCATGCTCCAGAATAGATAGGGGACTTGATAA AGCAGGTCTCTGCAAATATGGAGAAGTGTTGAAAGTAGACTGTGGCAGGAACTATGGTTG AACATTAGCATAGGAGAAGATGAAGACCTGAGGGGAAAGATTGTGGATTCTAGGCAGTTA GTGCTTCATTTTGAAAATAATGATAGCTACTGTTAAATATTTAACTGTGTCTCTTTTACT ATTTTTACTTTGACGCATTCGCTCTGTTTCAAGTTCTATGTTAAATGCTTCACACACATC ATCTCATTTAGTTCTTACACCCTTATGAGGAGGGTCCTATATACTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTTGCTTTGTTGGCCAGGCTGCAGTGCAGTGGCGCCATCTCTGCTCA CCGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGG GACTACAGGCGCGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGT TTCACTTGAACTCCTGGCCTCAAGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACTGCGCCTGGCCCTATATACCGTTTTACTAATGAGGAAATAGGTT CAGAGAGGCCAAGTACCTTGCCACAGCCAGCAAGTGGCATATCTGGATCTCCATCTGTTA GATTTATTAATTGTATGTTTTTGGACAAGTTGCTTAACCTCTCTGGGATTAAAAATTTCC TCAATTGTAATAATACTTACCTTATAGGTGGGGTGTGAGGAATAAATCAGATAGATCATC CAGCCCAATGTTCATAGCAGGTACTTGGTAACTGTAGCTAAGGTTTGGGTACAGAGCAGT GAAGGATCAACATTCTTCTGATTATTACTAGGAACTTTGTGAAGGAAGCCGAGGAGATCA GCTCCAACCGCCGGATGAATAGCCTGACCCTAAACCGGCACACAGAAATTTTGGAAATAC TGGAGATTCCTCAGCTCATGGACACCTGTGTCCGGAACAGTTATTATGAAGAGGCCCTGG AGCTTGCAGCCTACGTACGCCGACTGGAGAGGAAATACTCTTCCATCCCTGTCATCCAGG TAGCCACCTTGCCCAGAGAGGACTCAAAGTAATGTTCTTGTAATCATTTATTCTGTGGTC AGGACTGAAGCTTTAGGTAGAAACTCTTGCATGTTTCACATCAGTTTCTGCCAGCCAGGT ATGCCTGAACAGAAAACATTCATTTATTCAAAATACATATTAATCATGTGCCAAGCACTG CTCTATATGCTGGGGATACAGTGTGAATAAAGTGGTCCTGGCTCTCATGCAGCTTACGTG CTAATGGGAAGTCTGATAATTGACAAAGAAATGATATCATTTCAGATAGTGGTGTCTGAA GAAAAAAACAGGGAATGGGGTAAGGGAGTCTAGGGTAGGTTTCTTTAGGTAGGGTGATCA AGAAGGACTCTTCTAGGGAGGTAACATTTAAGCTGAGACCTAAATGAGAAGGAGGTGCCA GCCCACAAAGATCTGGGGAGAGAGCAAACCAGAAAGTGTGAAGAACAAGTAGAGAGGGCT GAAGTGGGCAGAAATTGAGGTGTTTAAGGGATACAGAGGCAGCCAGGGTTAATGGATTGT AGCAGCGGGAGAGCACTAGGAAGCAGGTGAAGATGGAGAGCCAGGTAGGGCCACCAGTGT AAGTCCCAACAAGTGGTTGGAATTTTCTTGATTGCAGTGGGAAGTCACTGGAGGATTTTA AGCTTTTTTTTTTTTCTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGG AGTGCAGTGGTGCGACCTTGGCTCACTGCAACCTTTATCTCCCGGGTTCAAGTGATTCTC CTGCCTCTGCCTCCCGAGTAACCGGGATTACAGGCCTGCACCACCACACCCACCTGATTT TTATATTTTTAGTAGAGACGAGGTTTCACATGTTGGCCAGATTGGTCTCAAACTCCTGAC CTCAAGTGACCTGCCTGCCCACGGTGCTGGGATTACAGGTTTGAGCCACTGCACCTGGCC AGGTTTTAAGCTTTTTAAGCAAGAGAGTTAACTAACCTGATCTTTGTTGGTGAACCTACA GGCATCAGCTTTAGGAAATTACTTCACATTTCAGGAAAGCCATGGGAATGTTGGTCTGCA GTCTTCAGAGTTAGGGGAATGGGTTCTAGAGAGCATCCTTCCCAGCGCAGTGTGACTCTC TCTGTGTATTGTCAGGGCATCGTGAACGAAGTGCGCCAGTCCATGCAGCTGATGCTGAGC CAGCTGATCCAGCAACTGAGGACCAACATCCAGCTTCCTGCCTGCCTCCGTGTCATTGGC TACCTGCGGCGCATGGACGTCTTCACTGAGGCTGAGTTGAGGGTGAAGTTTCTTCAGGCC CGAGATGCTTGGCTCCGGTCCATCCTGACTGCCATTCCTAATGATGATCCCTATTTCCAT ATTACAAAAACCATCGAGGCCTCCCGTGTCCATCTCTTTGATATCATCACCCAGTACCGT GCCATCTTCTCAGACGAGGACCCACTGCTGCCCCCTGCCATGGGTGAGCACACTGTGAAT GAGAGTGCCATCTTCCATGGCTGGGTGCTACAGAAGGTCTCACAATTCCTGCAGGTGCTG GAGACCGACCTTTACCGGGGCATAGGCGGCCACCTGGACTCTCTGCTGGGCCAGTGCATG TACTTTGGGCTGTCCTTCAGCCGGGTGGGAGCTGATTTCCGGGGTCAGTTGGCTCCTGTT TTCCAGCGGGTGGCCATCAGCACTTTCCAGAAAGCAATTCAGGAAACAGTGGAGAAATTC CAGGAAGAAATGAACTCCTACATGCTCATCTCGGCTCCAGCCATCCTGGGCACCAGTAAC ATGCCTGCTGCTGTGCCAGCCACCCAGCCGGGGACGCTGCAGCCACCCATGGTGCTCCTA GATTTCCCACCCCTCGCCTGCTTTCTCAACAATATTCTGGTTGCCTTCAATGATCTGCGC CTCTGCTGCCCTGTGGCCCTGGCGCAGGATGTGACTGGGGCCTTGGAAGATGCCCTTGCC AAGGTGAGCACATTCTGTTGGTTTTCTGCTACCCTGGGCCTTCTCTGGTAATGGGTGGCC AGATTTTTGTAATAAACCCGTCTATTTGACGGTGTCTGCTGACATGGAGAGGTCTAGTGT GGTTTTGGAGGTTCTCCTGATTGAGAAGCTCTGGCCAGTTGCCCTTCATGGGACCTAGGA CAGTCCATGAAGTGATTTGCCTATAGTAACAATTCGGTAATACACGTATTAGCTTTCTAG TGCTGCATAACAAATTTCCACAAACTTAGTAGCTTCCAGCAACACATTTATTACCTTCCA GTTTTGGTGGGTCAGGAGTCCAGGCACAGCACAACCGGGTCCTCTCTGCTCAGGGTCTTA CAGGGTTGCCATCAAGGTGTTGGCTGGACTATGGCCTCATCTGGAGGTTGGGGCTCCATT TCAGACTCATGCAAGTTGGCAGGGGTCAGTTCTTTGCAATTGCAGAACTGAAGCCTCAGC TCCTAGAGGCTGTCCACTCCATAGGCAGCTGACAACATGGCTGTTTGCTTCCTCAAGGCC AGCAGGAGAGCTACTCTCTTGAGTCTCTTCTTTTAGGTACCTCCTTTTAAAAACTTCATT TGATTAAGTCAGATGATTAGGGACTTTAATTACATCTACAAAACCCTTTACCTTTAGCAT ATTCTTTTATTTTTATTGTTAAAAGTGTTTTATTTTACAGAGAGATAGTGTCTCCCTATG TTGCCTAGGCTGGTCTCAAACTCCTGGACTCAAGTGATCCTCCTGCTACAGACCCTCAAA GTGTGGGATTACAGGTGTGAGTCACTTGAACTTGGGAAGTCCAGCATCAGAGTCTGTGTT CTTACCCTGTCGCTATGCCACATATCTGTAGTGTCAGCTAGGCTGCTCTGTTGGTTTTGA AACTTCTCTTTCCTAGCTGTTTTCTTACAGTTTTCCAGTGGTTCTAGCTTTCTGAAACCT CGGGGCTTAGTAGAAAGCTTGTATAGTTTTGCTTCATTTTCCTGGATCCAGCACAGTTCT GGTTGGTCCTCCGTGGAAGTTAAGAACCATGTATTGGGCCGGGCGCAGTGGCTCACGCCT GTAATGCCAACACTTTGGGAGGCTGAGGTAGGAGGATCTCTTGAAGCCAGGGGCTCCAGA CCAGCCTGGGCAACAAAGCAAGACCCTGTCTCTACAAAAAATTTTAAAACTTAGCCAGAC GTGATGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGTATCCCTTGA GCCCAGGAGTTTGAAGCTACAGTGAGCTGATTGTGCCGCTACACTCCAGCTTAGGTGACA GAGCAAAATCCTGTCTCTAAAAAAAAAAAAAAAAAAACCAAAACCATGTATTCTCTCTAT AGTTTTATGACACTCCTCCACTGGAACCGGAAACTATACCCGTAATGTAACAAGTTGGGT CTGAACTTCACATTAATAAAGTGACACAATTGTGGACAATGACCATAATTCTGAGTTTAA ATGAGACAGTAAAATAATGTACTGTTAAATTACTTTGTTCAGGAAAACTGGAGGGGCATA CATTTTTTTGCCTAGTTTCATGCACTGCTGTCCCAGTGGTGATAGGCTGTCCCAGTAATT GACGGTGCCCTTGTCTCTTAGGTAACTAAAATAATCCTGGCCTTCCATCGCGCTGAAGAG GCTGCCTTCAGCAGCGGGGAGCAAGAGCTCTTTGTCCAGTTCTGCACTGTCTTCCTGGAA GACCTTGTTCCGTATTTAAATCGCTGTCTCCAAGTCCTTTTTCCACCAGCTCAGATAGCA CAGACTTTAGGTAAGAGAATGAAAATTCTGTAAACTGCCTTACTGATGTGTAATTCACAT ACTAAATAATTCATCCATTTGTGTAAGTCAGTGTTTTTTAGTAAATATGAATCCAATTTT AGAATATTTCCATCACTCCAAAAAGATCCTTCATGCACGTTTGTAGTCATTCCTCGACAG CATCCTTAGTCCCTGGCAACCTACTTTCTGTTGCCATAGATTTGCCTCTTCTGGACATTT CATAAAAATGGAATCATACATTATGTGGCTGTATCTGGCTAAGCGGAAGAAGCCAGTCAC AAAAGAACTACATACGTATGATTCCATTTATGTGAAATATCTAGAGAAATGGTTTTTACA GTCTTTTTTTTTTTTGAGGCGGAGTCTCGCTGTGTTGCCAGGCTGGAGTGCAGTGGCACA GTCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGACTCGCACCACCACGCCCAGCTAATTTTTGTGTTTTAGTAG AGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCTATCTCTTGACCTGTGATCCGCCCA CCTCGGCCTCCCAAAGTGCTCGGATTACAGGCGTGAGCCACCACGCCCGTCCTAAAGTCT TTTTTCCAATTCACTTTCACGTCCTTGTCCCTTTGTGGTAGGAGAGGGGCTTGGTTGAGG CACAGCTTCCCAAAGGGCAATGGGTCAGTGCATCACACGTGCAAAGCCTGGCTGCCCTCT GCTTTTTCCCTGGTGCTGCCTGAGGTCTGGGTTCCTGCTGCAGGCACCCTACACTGCTGT TCCGTTACGTTCTGCTTCACAGTATAGCTTCCCATTCCCTGTAACAAAGGTGGTTTTTGC TGTATTAAAACATAGTAATTGATGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGATGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGGCCAA CATAGTAACTCCGTCTCTACTAAAAATACAAAAATTAGCCTGGCATGGTGGCGGGCGCCT GTAATCCCAGCTACCACGGAGGCTGAGGCATGAGAACTGTTTGAACCTGGGAGGCAGAGG TTGCAGTGAGCAGCAATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCT CAAAAAAAAAAATAGTAATGGCTCGTTTTTTTTCCCTTAAATTTCCTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTTTTGCTCTTGTGGCCCAGGCTGGAGTGCAATGGCGCGATC TCGGCTAACTGCAATCTCCACCTCCTAGGTTCAAGCGATTCTCCTGCCTTAGCCTTCCCA AGTAGCTGGGATTACAGGCCTGCGCCACCAAGCCCGGCTAATGTTGTATTTTTAAGAGAG ATGGGATTTCTCCGTGTGGGTCAGGCTGGTCTCGAATTCCTGACCTCAGGTGATCCGCCC CCCCCTCCCCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTC CCTTAAATTTCTATATTGAGTTTTATTAGTAACTGTTTTCCATTTTGCTTTCCCCACGTC TGGGTTAGGCATTCCTCCCACTCAGCTCTCCAAGTACGGTAACCTAGGGCATGTGAACAT CGGCGCCATTCAGGAGCCCCTCGCCTTTATCCTGCCAAAGAGAGAGACGCTTTTCACCCT GGATGACCAGGCGCTGGGGCCCGAGCTCACAGCTCCAGCACCAGAGCCTCCCGCCGAGGA GCCACGCCTGGAGCCCGCGGGCCCAGCCTGCCCGGAGGGAGGGCGAGCGGAGACGCAGGC CGAACCGCCCAGCGTGGGGCCCTAGCCGGCGTCCCCTGCCTCCAGAACGCGGTGCGTGAG GTTCCCGGCGCGGGGTGGCCAGGACTGCCTCGCCCTGGAAGGTCCGGGGCGGGTTCGGGA GGCGGGAAGGCGCTCCCGGGAGGAGAGCGGAAGGGGGCGGTGCTCACTGCCAGTCTAAGC AGGAAGGCGGGGATCCAGTCGCGGCTTCGCTGTGTGCTGGCCGACGGCGCTTCCCGGCGT GCCCCGCGCTGCGGCCGGAAGGGGCGGGCCGGGTCACTGTTAAGGGGGCCGCCATGGCCC GGCTGTGGGGCGCGCTGAGTCTTTGGCCACTGTGGGCGGCCGTGCCGTGGGGCGGGGCGG CAGCCGTCGGTGTCCGGGCTTGCAGCTCCACGGCCGCCCCGGACGGCGTCGAGGGCCCGG CGCTGCGGCGCTCCTATTGGCGCCACCTGAGGCGTCTGGTGCTGGGTCCTCCCGAACCGC CGTTCTCGCACGTGTGCCAAGTCGGGGACCCGGTGCTGCGCGGCGTGGCGGCCCCGGTGG AGCGGGCGCAGCTAGGCGGGCCCGAGCTGCAGCGGCTGACGCAACGGCTGGTCCAGGTGA TGCGGCGGCGGCGCTGCGTGGGCCTAAGCGCGCCGCAGCTGGGGGTGCCGCGGCAGGTGC TGGCGCTGGAGCTCCCCGAGGCGCTGTGTCGGGAGTGCCCGCCCCGCCAGCGCGCGCTCC GCCAAATGGAGCCCTTCCCCCTGCGCGTGTTCGTGAACCCCAGCCTGCGAGTGCTTGACA GCCGCCTGGTCACCTTTCCCGAGGGCTGCGAGAGCGTCGCCGGCTTCCTGGCCTGCGTGC CCCGCTTCCAGGCGGTGCAGATCTCAGGTGCGGGCGGCGGGGACCGGGGCTGCTGGAGCA GCGCGCGCGTCTCTTCTGCCCGACTCCGCGAGAGCGCAGAAGTGGTCGCGGTTCATACGC CGGACCTCCCGCAGGAGCGAAGTGGGATGCGGGAGCGGAGAGGCCTCAGGACGGATAGAA GCTCCTGTGGGGTAGAGCCCGCTCAGATAGGACGCAGGGGCGAGGAGAGGTCCCCTAGTT CCGCTGTTACCTGACAGCCTGGCGTCTGCTTTCTGCTCCCTTGCTCTCTGAGGCAAACAC GCTCTTCGGCCCCAGTTAGATCCGCCACGGTGGAGTTGGAGAAGTGGGGGTTAGCCCCCG CCAGCCTGACCCAGCCCAGGGGGCTAGGCCATTCCCCCGTGGTACCACAGGATGCCTCGC GGAATGCGGGCTCTGCTGGGGTCGGGGTGATTGTTCCTGCACAGCAAGCCCGTCGGTTCA AGATGGTCAGAAAAACAAGTGGGGTCTCAAGCTGCAGAACCTCTGTTAGGAGTTGGGAGC CCACAGGTACCTCAGAAGTGGGAGGAGTGTTCGGAAGGGTCGCACCGTAGAAAGATGATT TCTCATCTCAGCTCTACAGTGAGCTCGATAACCTAATTACCAGAGTTGGGAACCAGGTTG AACGCTTGGTAATGGACCGAGATGAGGGACGTTTTCCAGTTAGAAGAGGAGCTGCTGTCT ACATTTGCCATCTGCTGTTGCCTCTTGTCAATGGGAACAGCCAGGACCGGGGGCAGGGGT AGGGAGGTTGAGGATGATGCAGTTCAGCTGTTCCCACTCACCAGGGCTGTAACTTCCTTT GCAGGGCTGGACCCCAATGGAGAACAGGTGGTGTGGCAGGCGAGCGGGTGGGCAGCCCGC ATCATCCAGCACGAGATGGACCACCTGCAGGGCTGCCTGTTTATTGACAAAATGGACAGC AGGACGTTCACAAACGTCTATTGGATGAAGGTGAATGACTAAAGCTTTGCTACTGGGGCT GAGGATTCCGGATACCAAGACGCAAACACTTTCACTTTGAGCTGGGCAAATCTTACTTGG CATCAACTTGGATGGCTCGCATATGACAGGAAACTGGATTGCCAAGGCATGGCAGACTGA GCTGGAGGAAGATGTCAGAAATGTTTGCCCTGAAATCAGTTACGGACAAAATGTTGGCTA CAACTTGAGGAGAAAAATCACCCCCAAAGGAGTGGACATTTCCTAACAATTCTGTATGGA GGAAGGTGGGGTAATTGCATTCGTCTGCAGTAGACACGAGTTCCTCGGACCTGTATAATC TCCCAAAGCCAAGGTTTGGTAATAATGTAGTCCCCAAATACCTGAAAGCTGTCTTTAAAA ATGCAGGTAAGCATGTGACTGGC OMIM ID 606979