Path: utzoo!utgpu!watserv1!watmath!uunet!zaphod.mps.ohio-state.edu!sdd.hp.com!uakari.primate.wisc.edu!ames!bionet!root From: GenBank-Updates@genbank.bio.net Newsgroups: bionet.molbio.genbank.updates Subject: Human cystic fibrosis transmembrane conductance regulator (CFTR) Message-ID: Date: 16 Jan 91 13:03:53 GMT Sender: root@genbank.bio.net Distribution: bionet Lines: 31 Approved: lear@genbank.bio.net Checksum: 20600 2 LOCUS HUMCFTR4 87 bp ds-DNA PRI 16-JAN-1991 DEFINITION Human cystic fibrosis transmembrane conductance regulator (CFTR) gene, exon 12. ACCESSION M55028 KEYWORDS cystic fibrosis; transmembrane conductance regulator. SOURCE Human DNA. ORGANISM Homo sapiens Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia; Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae. REFERENCE 1 (bases 1 to 87) AUTHORS Kerem,B.-S., Zielenski,J., Markiewicz,D., Bozon,D., Gazit,E., Yahav,J., Kennedy,D., Riordan,J.R., Collins,F.S., Rommens,J.M. and Tsui,L.-C. TITLE Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene JOURNAL Proc. Natl. Acad. Sci. U.S.A. 87, 8447-8451 (1990) STANDARD simple staff_review FEATURES Location/Qualifiers exon 1..87 /number=12 /gene="CFTR gene" /codon_start=1 mutation 42..42 /note="replace(42,'a')" /gene="CFTR gene" /label=P574H BASE COUNT 33 a 9 c 15 g 30 t ORIGIN Chromosome 7q31-q32. 1 agcagtatac aaagatgctg atttgtattt attagactct cattttggat acctagatgt 61 tttaacagaa aaagaaatat ttgaaag //