LOCUS S62084 57 bp mRNA linear HUM 25-AUG-1993 DEFINITION OCRL-1 [human, patient 1, mRNA Partial Mutant, 57 nt]. ACCESSION S62084 VERSION S62084.1 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 57) AUTHORS Leahey,A.M., Charnas,L.R. and Nussbaum,R.L. TITLE Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe JOURNAL Hum. Mol. Genet. 2 (4), 461-463 (1993) PUBMED 8504307 REMARK GenBank staff at the National Library of Medicine created this entry [NCBI gibbsq 133127] from the original journal article. COMMENT Deletion of one exon. FEATURES Location/Qualifiers source 1..57 /db_xref="H-InvDB:HIT000215983" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" gene 1..57 /gene="OCRL-1" CDS 1..57 /gene="OCRL-1" /note="Unknown" /codon_start=1 /protein_id="AAD13933.1" /translation="SAYDPRICRQLLSSLVFS" BASE COUNT 9 a 20 c 9 g 19 t ORIGIN 1 tctgcttatg atccccggat ctgccgacag ctactctctt cactagtctt ctcctga //