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
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