http://www.ncbi.nlm.nih.gov/genome/guide/HsChr12.shtml
Human Chr 12 Pubmed Entrez BLAST OMIM Taxonomy Structure Search Genbank Genemap'99 Locuslink MEDLINE OMIM Unigene Maps dbsts for Human Genome Resources Select a Chromosome: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 X Y Mapviewer Chr 12 Locuslink Chr. 12 Loci Unigene Chr. 12 Clusters Mouse Homologies for Human Chr. 12 Chromosome 12 Disease Genes The enzyme phenylalanine_hydroxylase converts the amino_acid phenylalanine to tyrosine. Loss of this enzyme leads to a variety of symptoms. Some diseases associated with chromosome 12 mutations Darier Disease Dentatorubro-pallidoluysian Atrophy Noonan_syndrome Familial Periodic Fever Phenylketonuria See OMIM or Genes and Disease for additional examples and detailed information. OMIM Home_page OMIM Morbid Map Genes and Disease Sequencing Progress Euchromatic size: 143000 kb Finished sequence: 94254 kb Percent finished: 65.9%Number of contigs: 231 List contigs by size List contigs by position Sequencing is being coordinated by The Baylor College of Medicine. Major contributions have come from: The Baylor College of Medicine Albert Einstein College of Medicine STS Maps Map STSS Type Ref Genemap'99 1585 RH 1 Whitehead 707 YAC 2 Stanford 478 RH 3 Genethon 249 Link 4 Cytogenetics Mitelman et_al. 5) have_cataloged recurrent chromosome aberrations associated with cancers. Chromosome 12 aberrations References 1 Deloukas et_al. 1998). ) A physical map of 30,000 human genes. Science 282,744-746.2 Hudson et_al. 1995). ) An STS-based map of the human genome. Science 270,1945-1954.3 Stewart et_al. 1997). ) An STS-based radiation hybrid map of the human genome. Genome Res 7, 422-433.4 Dib, et_al. 1995). ) A comprehensive genetic map of the human genome based_on 5, 264 microsatellites. Nature 380,152-154.5 Mitelman, et_al. 1997). ) A breakpoint map of recurrent chromosomal rearrangements in human neiplasia. Nat Genet Apr 15 Suppl. 417-474. Comments or Questions? Write to the NCBI Service Desk