ID   S71595; SV 1; linear; genomic DNA; STD; HUM; 52 BP.
XX
AC   S71595;
XX
DT   23-OCT-1994 (Rel. 41, Created)
DT   14-NOV-2006 (Rel. 89, Last updated, Version 8)
XX
DE   low density lipoprotein receptor gene {exon 5} [human, familial
DE   hypercholesterolemia patient, Genomic Mutant, 52 nt].
XX
KW   .
XX
OS   Homo sapiens (human)
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
XX
RN   [1]
RC   GenBank staff at the National Library of Medicine created this entry [NCBI
RC   gibbsq 150858] from the original journal article.
RP   1-52
RX   PUBMED; 8004803.
RA   Schluter G., Wick U.;
RT   "An 87 bp deletion in exon 5 of the LDL receptor gene in a mother and her
RT   son with familial hypercholesterolemia";
RL   Clin. Genet. 45(2):84-87(1994).
XX
DR   MD5; 86eb0d7985021b1c5328113cd4ded7f6.
XX
CC   Deletion in exon 5.
XX
FH   Key             Location/Qualifiers
FH
FT   source          1..52
FT                   /organism="Homo sapiens"
FT                   /mol_type="genomic DNA"
FT                   /db_xref="taxon:9606"
FT   CDS             14..49
FT                   /partial
FT                   /codon_start=3
FT                   /gene="low density lipoprotein receptor gene"
FT                   /db_xref="UniProtKB/TrEMBL:Q16175"
FT                   /protein_id="AAD14091.1"
FT                   /translation="VAMSDEVGCVN"
XX
SQ   Sequence 52 BP; 8 A; 10 C; 17 G; 17 T; 0 other;
     tcctgttttc cagctgtggc catgagcgat gaagttggct gcgttaatgg tg                52
//