LOCUS S62085 169 bp mRNA linear HUM 26-JUL-2016 DEFINITION OCRL-1 [human, patient 2, mRNA Partial Mutant, 169 nt]. ACCESSION S62085 VERSION S62085.1 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 169) 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 133128] from the original journal article. COMMENT Nonsense mutation at base 2746. FEATURES Location/Qualifiers source 1..169 /db_xref="H-InvDB:HIT000215984" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" gene 1..169 /gene="OCRL-1" CDS 1..93 /gene="OCRL-1" /codon_start=1 /protein_id="AAB26926.1" /translation="SAYDPRICRQVISQLPRCHRNVFRYLMAFL" BASE COUNT 40 a 46 c 29 g 54 t ORIGIN 1 tctgcttatg atccccggat ctgccgacag gtgatctccc agcttccgag atgccataga 61 aatgttttcc gttacttgat ggcattcctt tgagaactct taaaattctc tgaatacaat 121 agcgtcaatg ccaacatgat cgctactctc ttcactagtc ttctcctga //