LOCUS S72312 60 bp mRNA linear HUM 26-JUL-2016 DEFINITION phosphofructokinase-M=2.7.1.11 {exon 22} [human, Ashkenazi Jewish patient, mRNA Partial Mutant, 60 nt]. ACCESSION S72312 VERSION S72312.1 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 60) AUTHORS Sherman,J.B., Raben,N., Nicastri,C., Argov,Z., Nakajima,H., Adams,E.M., Eng,C.M., Cowan,T.M. and Plotz,P.H. TITLE Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency JOURNAL Am. J. Hum. Genet. 55 (2), 305-313 (1994) PUBMED 8037209 REMARK GenBank staff at the National Library of Medicine created this entry [NCBI gibbsq 152007] from the original journal article. FEATURES Location/Qualifiers source 1..60 /db_xref="H-InvDB:HIT000216422" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /note="from Ashkenazi Jewish patient" gene <1..60 /gene="phosphofructokinase-M, PFK-M" CDS <1..60 /gene="phosphofructokinase-M, PFK-M" /EC_number="2.7.1.11" /note="conceptual translation differs from the translation presented in the manuscript (15[W->V]); PFK-M" /codon_start=1 /product="phosphofructokinase-M" /protein_id="AAB31343.2" /translation="GGSQPHLIGILPLRWAPRL" BASE COUNT 16 a 13 c 18 g 13 t ORIGIN 1 ggtgggagcc aaccccattt gataggaatt ttgccactaa gatgggcgcc aaggctatga //