GenBank-Updates@genbank.bio.net (10/03/90)
LOCUS HUMCOL2A1A 153 bp ds-DNA PRI 03-OCT-1990 DEFINITION Human collagen type 2 (COL2A1) gene, exon 48. ACCESSION M37126 KEYWORDS collagen type 2. SOURCE Human DNA from 7 year old with spondyloepiphyseal dysplasia. ORGANISM Homo sapiens Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia; Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae. REFERENCE 1 (bases 1 to 153) AUTHORS Tiller,G.E., Rimoin,D.L., Murray,L.W. and Cohn,D.H. TITLE Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia JOURNAL Proc. Natl. Acad. Sci. U.S.A. 87, 3889-3893 (1990) STANDARD simple staff_review FEATURES from to/span description pept / 1 / 153 collagen type 2, exon 48 (COL2A1; AA at 1) BASE COUNT 24 a 52 c 44 g 33 t ORIGIN 1 ggtcctcctg gccccgtcgg tccctctggc aaagatggtg ctaatggaat ccctggcccc 61 attggtccct ctggcaaaga tggtgctaat ggaatccctg gccccattgg gcctcctggt 121 ccccgtggac gatcaggcga aaccggccct gct //