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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

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

Entrez gene ID 25974 Official gene symbol MMACHC Full name methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria Aliases ,DKFZp564I122,FLJ25671,RP11-291L19.3,cblC, Gene summary The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq] Location Chromosome: 1   Locus: 1p34.1 Gene position 45965856 - 45976739  Map Viewer Gene orientation plus Gene size 10884 bp Gene sequence >MMACHC:15937774..15948657:Length=10884 ATCCCAAGATGCATCGCGCATAGGCAATATGGTCCCGCTACTGGACCCATTTCCTACCTG GGAAATGGAGTCGAAGCTGACTCAAAACGTAACGGCCCAATTGTCCTTGAGACTTCATTC CCCAGCAAGCTCAGCGTGTAACGTGCGCTATGGAGCCGAAAGTCGCAGAGCTGAAGCAGA AGATCGAGGACACGCTATGTCCTTTTGGCTTCGAGGTTTACCCCTTCCAGGTTAGTTTAT CCCTCCTGCTGTTCTAGGGCGAAATATATGATTGGCTTCGTTGCAACTGGCGTGAGGCCT CGGGAGCCTCTGATCCTCCTGGGTTCCTGCAGCCCAGTGTCCATGTGACAACAGGGACAG AGTTTCAGTGGGGGCTTGGGTTAAAAAGGTAGTGGTCGAGGCCGGGCATGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTGAGGAGTTCG AGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAATTAGCCGGG CGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGACAATTGCTTG AACCCATGAGACGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCAGTCCAGCCTGAGCA ACAAAGAGCGAAACTCCGTGTCAAAAAAAAAAAAAAAAAAAAAAGTTGTCGCATGTTTAA CCTTTTGCCACCATATAATGCCGGATTCGTTAACGGGAGACACCATATGACCTGTAGCGT GTGTGGCTCAGATTGTCACCTATATAATTTACAAGAAGAAAGGGACCTGTGAGGCAAAGT CACCTTGGAACTTCCTAAAGGATTTAGGAGAGGGCAAAGCCTAGAAGGTTTGCATAGCTA TCATTTAGGTCAGCTGAGGAAGGAAGGGCATTCCTGGTGATGAACAGGCAAACAATTGGC TGGTTTGTTCCCTCTACCAACAGAAGGATAATTCATGATATTTCCAGTCATCAGTGCTGG GCTGGGTAATGAAACTTTGTACACTTGCCTGGCACAGCAGTCTCAGCACCGCACCCCGAC CCCCATTTACACGGTTACATTTCCCCACATCAGTGCCCTGTGCACTGAGCAGTTAAGTTA CAAAGCTAAATCAGCTCAGCTTGAGCCCTTTGCCTGATGCTTAAGAGACTACCCACTTCC CATTCCTTCTGCTGAGTGGCTCACAGCAGTCCTGGGAGAGGATATAGAGGGAGAAGTAGG TTGGGTCTAGCTTGAGACTGGTCTTGCCAGAAAAAATGGAATTGAGCTATATATGAAAAG ATAGATTGGAAGGAAGGAGGGTTATGTACATCCCAAATATCAGAAAAAGCTTGAGTAAAG GTGTGGAGATAGTGGTGTGGTGTTACCAAGTAAAAGGGCTTGATGCCTGATGTGCTGGAA GCTAATATTATGACACTGGGTTTTTGAGAAAACAAAAGCTATTTGTTGCAGATCGACCTT TAACTCTTTGAGACACCGTTTCAGTGGATGGCAGGTGTGTGGGAGAGTGAGAATGCCTAT CTGGCAAGTTGAGTAGACCTGGGTATTAGGAGCTTTTGTACTGAACAAAGCCAACTGCAG CCCTGCCAGTCACCCTAGGCTCCTACCTCTCACCTCCCTACCCCCACATCCAATCAGCCA CCAAGACCTATAAGACTGTCTACTGAATCTCCCAAATCCATTCCCTTGTATTCCACCCAT CTATGCTGTGGTCCAGGCCACCATTTCTCACTTGGATTACTGTAATAACCTCCTTGCTGT AATTTTACCTCCAGTCCCTCCTCCACACTGCAGCCAGTGTGATCTAAAAATGATCATGCT AGTTTACTCCTTAAATCTTCAGTGGCTCTTCACTGTCACCAAATTAAATCCATATTCCTT AAATTGGTATTCAAAGCCAATCAAAATCTCACTCCTATTGATCTCTCCAGCCTTCTCTCC CTCTGATTCCCTCTACAGACCCTTCACTTCCACCAAACTAGACAATTCTCAAATATACCC AGGAATTTTCTGCCAGTGTGTTTGCTTATGCTGTGACTTGTTTATTTTATTCTTTATTTA TTTAGAGACAAAGTCTCACTCTGTCCTCCCGGCCGGAGTGCAGTGGTGCAATCATAGCTC ACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCACTTTAGTCTCCCAAGTAGCTG ACTCCAGGCATGCACCAACACTCAGGGTCTCACTTTGTTGCCCTGGCTGGTCTTGAACTC CTGGCCTCAAGTGATCCTCCTGCTTCGGCCAGCCACCCAAAGCACTGGGATTACAGGCAT GAGTCACCGCACTCAGTCTGTGACCTCTTTTTAAAATACACACCAGTGAGTTTATGTGTT TTTTGGTGAAATATAAATAATAAATAAATGCACACCAGATTCTCCTCCCTACATCAACCT GACAGTTGACCAGTTGACTTTCTAGCCTTCAAGACTTAGCATCCAAGGAAGCCTTTTCTT TTCTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATG GTGCGATCTCAGCTCACCACAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCAGAGTAGGTAGGATTACAGGCATGTGCCAACATACCCGGCTAATTTTGTATTTTT TTTAGTAGAGACAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTG ATCTGCCTGCGTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCATGCCCGGC CACAAGGAAGCCTTTTCTAATTTCAGAGGACCCTTATCTGACCCTGTCATTGCACTAGCT ATAGTACAGTCATTTCTATTGTTCTTAGTGGTTCTGCCTATTAGAACTTTCTGCAGCCAG GCGTGGTGGTTCTCACCTATATCCCAGCACTTTGGGAGGCCAAGGTGGGTAAATTACTGG AGGTCAGGGGTTCAAGACCAGCCTGGCTAACATGGTGAAATCCCGTCTCTACTAAAAATA CAAAATTAGGTGGGCGTGGTGGTGTGCACCTGTAATCCCGGCTACTCGGGAGGCTGAAGC AGGAGAATCGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGTCGAGATCGCGCCATTGCA GTCTAGCCTGGGCAAGAAGAAGAGCGAAACTCCATCTCAAAAATAATAATAACTCTCTAA CTCTCTGCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCCGGCT GGAGTGCAATGGCACCATCTTGGCTCACTGCAACCTCTGGCTCCCAGGTTCAAGCGATTC TCCCGCCTCAGCCTCCTGAGTAGCTGAGATTTCTGCCTCTCTATTCTAAGTTCCCTGCCA TATAATACATGAACCTATAATAGACATGAGGGGGAACAGACCTAACCACAACAGTCACAT TATTAGTTGAGCACCGACACAGACTTCACTTATCTGTTACAGCAGTAAAACCAGCTACAA TCAAACAAGTAATGGTCATCCCACTCTGTCCCATTAATGCACAACCCCAGGTAGCCTGTG TAGACCTGTGTCAAGTGTTCTGCACTATGAGTCAGAAATCCCCAGTAAGTGATGCCGGTA TATACATAGCACTTTGTGTGAACAGCAGAAACCTCCACAACTACGTGATTTAGCAAGTTC ATTGCAGGTTATGTTATGGGTCTTCGGTTTGGGCTTCTTGTGACATCTCTTCTCCATGTT CAGTGTGTGAATGTGGGTGTAGACGGTGTTACAGGTGAATCCAATTTCTTGGATGTCCAG GCCAAGTGGACAAAAGCAAATATTGTGTGTCCTAAAACTGAAAATAAAGTTTGCATTAAT CACATATTTGCTTTGCTGATTGGTCAACCTCAAAAACACAGGCTTGCTGGCCGGGCACGG AGACTCAAGCCTGTAATCCCAGCACTTTAGGGAGGCGGAGGCGGGTGGATCATCTGAGGT CAGGAGTTCAAGACCAGCCTCGCCAACATGATGAAACCCCATCTCAACTAAAAATACAGA AAATGAGCCAGGTTTGCTGGCAGGCACCTGTAATCCCAGCTCCTCGGGAGGCTGAGGCAG GAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCACAAACTC CAGCCTGGGGAACAAGAGCAAAATTCCATCTCAAAAAAAAGAAACCAAACACAAGATTCC TGTTAGGGGTTTGTAGACTAATATGGTGTTGACCGTGGTAACAAGAAAGTCTGTCAAAAG CAGGAAAATCCCATCCTGGGCAACATAGGGAGACCCTGTCTCTACAACAAATTATTTTTT TGTTTTAATTAGCCAGCCAGGTGTGGTGGCTCACACCTGTGGTCCCAGCCACTCGGGAAG CTGAGGAGGGATGATTGCTTGAGGGAGGGAGGTTGAGGCTGCAGTGAGCTGTGATCACCT CACTGCACTCTAGCCTAGGTGACAAAGCAAGACTATCTCAAAAAAAAGAAGCAGAAAAAC CCCTGATGGGCTCAAGTCAGAGGTTAAGTACGTTTCTAGCCTCTTTGGTAGCATCAGTTC ATCATTAACTGATAAAAATGGTTTTTTTGGCCTGGCACGGAAGCTCACGCCTGTAATCCT AGCACTTTGGGAGGCCAAGGTGGGCAGATCAGTTGAGGCCAGGTGTTCGAGACCAGCCTG GCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGCCTGGTAGC ACACGCCTGTTAATCCCTGCTACTTGGGGGACTGAGGCACAAGAATCACTTGGACCCAGG AGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGTACCCTAGCCCCTGGGCGACAGTG AGACTGTATACATTTAAAAAAAAAAAAAAAAAAAGGGCCGTTTTGTTTTTAAAGACAGGT TCTCGCCTGGCGCGGTGACTCACGCCTGTAATCCCAACACTTTGGGAGGCCGATGCAGGT GGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACTCCGTCTCTAC TAAAAAATACAAAAATTAGCTGGGCGTAGTGATGCACGCCTGTAGTCCCAGCAACTTGGG AGGCTGAGACAGGAAAATCACTTGAACCCGGGAGGTGGAGATTGCAATAAGCCGAGGCTG CGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAAT AAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGG CCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACC GCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGC CTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGA CCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCG TGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAA CCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAAC AGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCA TCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTAT GGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAG ACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGC TGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACT GTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCA ACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGAT TCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACT TGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTC AGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTT TATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAG TGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTC AGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATT TCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGG TGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTG GCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCT GTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCT ATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTC GGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCC AGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACT TGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGG TGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTG CTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCT GGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCC CTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTC CAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTG CCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTG ACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTC AGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGA TCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGA CATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCT AGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAAC CTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGG CATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTC TCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAG CTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCT GGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTT CTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCA TAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAG CTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTG GCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAG GCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGG TAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACA ACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTA ACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGC ACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAAT AGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAG TGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTC CATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCC GATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAG ATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTAC TCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGG AGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCC TATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTA CCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCA GGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATG GTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTA CTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGG TTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTT TTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCT ACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAG CTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATG GGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTT GGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCT GTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCT CTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGA GGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAAC CCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAG CTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAG CCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAA AAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAA AATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTG TACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGA AGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTAC CTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAAT GACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATC CCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCT GGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGC TAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCT TCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGT ACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGT GTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCT GTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATG TGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTG TGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAG CAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATAAAGACTC ATCAAGGTCTCAGTTCAAGTTTAA OMIM ID 609831