LOCUS AF118846 2076 bp DNA linear HUM 26-JUL-2016 DEFINITION Homo sapiens gamma-glutamylcysteine synthetase (GLCLC) gene, partial cds. ACCESSION AF118846 VERSION AF118846.1 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 2076) AUTHORS Beutler,E., Gelbart,T., Kondo,T. and Matsunaga,A.T. TITLE The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency JOURNAL Blood 94 (8), 2890-2894 (1999) PUBMED 10515893 REFERENCE 2 (bases 1 to 2076) AUTHORS Beutler,E., Gelbart,T. and Matsunaga,A. TITLE Direct Submission JOURNAL Submitted (08-JAN-1999) Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Rd, La Jolla, CA 92037, USA FEATURES Location/Qualifiers source 1..2076 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="6" /cell_type="leukocyte" gene <1..>2076 /gene="GLCLC" mRNA join(<1..64,517..629,1648..1740,2047..>2076) /gene="GLCLC" /product="gamma-glutamylcysteine synthetase" CDS join(<1..64,517..629,1648..1740,2047..>2076) /gene="GLCLC" /note="similar to the product presented in GenBank Accession Number M90656; GCS" /codon_start=1 /product="gamma-glutamylcysteine synthetase" /protein_id="AAD18031.1" /translation="EKYNDIDLTIDKEIYEQLLQEGIDHLLAQHVAHLFIRDPLTLFE EKIHLDDANESDHFENIQSTNWQTMRFKPPPPNSDIGWRVEFRPMEVQLTDFENSA" variation 541 /gene="GLCLC" /replace="t" variation 1946 /gene="GLCLC" /replace="a" BASE COUNT 561 a 408 c 441 g 666 t ORIGIN 1 gagaaatata atgacatcga cttgacgata gataaagaga tctacgaaca gctgttgcag 61 gaaggtgggt ttctactcca tctttctggg tttgaatgta cgcctttagt tcttcaaagc 121 tcttttacac ttttttgctg actcctggtc tggtttctat ttttagtgca aagtctttaa 181 cttctctcat gaggctactt gttcctaaag tttcaggttc caaatacttg tgagattttc 241 ttgattttta gcaaaaggag cttactttgg aggtctgtgt ctaggtccac accagtgccc 301 cagcaggcat tgtgtaagta gtgaataaaa cgctgacact cccgcagtgt ccgcaggata 361 aaatactggg tgaggtgagg atactaatca aaccagctat ttcaagcttc tagacaccct 421 ttcttcaaac ttcctgagct atcctgtcgt ctttctggac taagaggaag tggattctcg 481 ctttgcagtg agttcccatg tgatctcttt ttgcaggcat tgatcatctc ctggcccagc 541 atgttgctca tctctttatt agagacccac tgacactgtt tgaagagaaa atacacctgg 601 atgatgctaa tgagtctgac cattttgagg tatcttctca gttttatttt tatttattta 661 tgtattgact tctgagagtc tggaatcctc tgttttatat gcatttcact tcacaaacca 721 acatggggag gcagttttct gtacctgtgg agaacacaaa agaaatttca taagactttc 781 atttacccag tgcagtaaag aacttggaca aataaaaaat cggtttcaag tactcttatt 841 ttacgattct tactgtttat ctcactgatt ctaatttttt tttttattgt tcagtatttt 901 cttatttgcc tagtggtgaa aaattcaaac atacactgca caaaaaataa cctgatcagt 961 tatttcagtg cttcagacat atcacctttt ttttttgtag atagacttct catagattta 1021 tttctgtgtc atgttatatg tagacattga catatatacc ttttgaaata ccatctatat 1081 cccctttctt tcccccacca aactcacaaa aggagatata aatccttcca gtcttgccat 1141 cggggtccca agatggtcag gacggagaaa gaactctctc tcagtgtatt gagaaacagc 1201 tacccttctt aggctcttgg gtcatcgaag cagcagcatt cccaggagag gaggaagaaa 1261 ggaaacaact gtcatgtgac agggttctca gatgaaagtg tccagtgtca cctggaaagg 1321 caggctggct cctaaaattc tcagggatga aggtgggggc cccgtggctc ttcagatgct 1381 gctctgtagc tgggagatag ggagtaggag ctgggtgaga ttaagcttgc agtgataggg 1441 cctcatagct tttcttaaac acttggctgt tttgttttcc taaaagagca cactcgaaga 1501 aaatcttcaa ttgtaccttt ttgtctttgt caattgaaat ttggtatgga cagtgagcag 1561 tcttcttcct taattaaata ccagatcatc ttaatatttt cctggatgtg tgaaaagttg 1621 gttttcttct ctgcttttgt atcacagaat attcagtcca caaattggca gacaatgaga 1681 tttaagcccc ctcctccaaa ctcagacatt ggatggagag tagaatttcg acccatggag 1741 gtaagacaca tgcatcagca agaactgact caaaagtact ctttcgccag ctgttcatca 1801 cccttctgat gctgctatga gaaggctctt atatataaaa taaaaattaa gtatgtgcat 1861 ggtagcaagt cagtccaagt taaggagggt tgatttctga gaatagatgt gggcaaaggg 1921 cttccagacc cagatgggga attaggagat ggcttgggaa tgacatgatc tgaggaaggg 1981 cctgggtcag ggaagagcat gtttgtgtag ttggttcata acttctctgg gcttctgctt 2041 gtctaggtgc aattaacaga ctttgagaac tctgcc //