LOCUS AY608689 3712 bp mRNA linear HUM 26-JUL-2016
DEFINITION Homo sapiens EFHC1 (EFHC1) mRNA, partial cds.
ACCESSION AY608689
VERSION AY608689.1
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 3712)
AUTHORS Suzuki,T., Delgado-Escueta,A.V., Aguan,K., Alonso,M.E., Shi,J.,
Hara,Y., Nishida,M., Numata,T., Medina,M.T., Takeuchi,T.,
Morita,R., Bai,D., Ganesh,S., Sugimoto,Y., Inazawa,J., Bailey,J.N.,
Ochoa,A., Jara-Prado,A., Rasmussen,A., Ramos-Peek,J., Cordova,S.,
Rubio-Donnadieu,F., Inoue,Y., Osawa,M., Kaneko,S., Oguni,H.,
Mori,Y. and Yamakawa,K.
TITLE Mutations in EFHC1 cause juvenile myoclonic epilepsy
JOURNAL Nat. Genet. 36 (8), 842-849 (2004)
PUBMED 15258581
REFERENCE 2 (bases 1 to 3712)
AUTHORS Suzuki,T., Mazaki,E. and Yamakawa,K.
TITLE Direct Submission
JOURNAL Submitted (27-APR-2004) Neurogenetics, RIKEN Brain Science
Institute, 2-1, Hirosawa, Wako-shi, Saitama 351-0198, Japan
FEATURES Location/Qualifiers
source 1..3712
/db_xref="H-InvDB:HIT000255737"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6p12.3"
gene <1..3712
/gene="EFHC1"
CDS <1..255
/gene="EFHC1"
/codon_start=1
/product="EFHC1"
/protein_id="AAT67418.1"
/translation="QELEALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFF
KICESLNVPVDDSLVKELIRMCSHGEGKINYYNFVRAFSN"
BASE COUNT 954 a 844 c 760 g 1154 t
ORIGIN
1 caggaattgg aagcattaat agacacaatt cagaagcaac tgaaagatca ctcatgcaaa
61 gacaacattc gtgaggcatt tcaaatttat gacaaggaag cttcaggata tgtggacaga
121 gacatgttct ttaaaatctg tgaatcgctt aacgtcccag tggatgactc cttggttaag
181 gagttaatca ggatgtgctc tcatggagaa ggcaaaatta actactataa ctttgttcgt
241 gctttctcaa actgacctgc tgatgagaaa atgcaagaca atttttgata ctggaactat
301 gctttgaaat acaccttaca ctcttcatag aggcatttac agggttcctg aagttttatt
361 tctgttttgg ttcttatttc actcctactg aagtcgaaac taaattggat ctaataggat
421 ctaagattgg tgccttattt agggtgatag gggtatagca atgtctaatt ttgtgtgtca
481 aattgacttg gccacagggg gcccaaatat ttcctttctt tctttttaaa aaaataaatt
541 tttttagaga tgggatctca ctctgtcata caggctggag tgtggtggca ctatcctggt
601 tctatgaagc ctcagactcc tgggctcaag tgatcctccc acttcaacct ccccagtggc
661 tgggacaaca ggctcaagcc accatgccca gctaattttt aaaattattt tgtagagaca
721 aggtcttgct aggttgcctg aacttgtctc aaactcatga gctccagaaa ttctcccacc
781 tcagcctcca aaagtgctgg gattataggc atgagccact gtgcccagcc tcagatattt
841 cattattctg ggggtttctc tgaaggtatt tttcgatgag ataaacattt gaatcagaag
901 actaagtaaa acagatagtc ctccctaatg tgggtgggcc tcctccaatc atttgaagac
961 atgagtagaa taaaaaggct gacctttccc caggtaagag aattcctcct gcctgactgg
1021 cttcaaattg gaacatcagc cttttcttgc cttcagacac aaatggaaac atcagctgtt
1081 ggtctggagc ctgctgacct tcagactgga cctaaaccat cagctctcct aagtcttagg
1141 cctttggatt cagactggaa ttataccttt agctctcctg ggtctccagc ttgccaattt
1201 accctgcaga tcttgggact tgtaagcctt cataattgtg tgagcaattt cttataactc
1261 tctctttctc tctctctaca tatatatata tatatatata tatatatata tatatatatt
1321 ttatatgtac acattcatac acacacacgc ttatatgtat acatatagta tgtatatgtg
1381 tatatatatt atgtatatac atatatgtgc acacatctct actaaaaata gaaaaattag
1441 ccaggtgtgg tggcatgtgc ctgtagtccc agccactcgg gaggcttagg tgggagaatc
1501 gcttgagccc tggaggcaga ggttgcagtg agccgggacc acgccactgc actccatcca
1561 gcctgggtga cagagcaaga ctccatctca aaaaaaaaaa ggttagaaaa atgctgcttt
1621 tagagagcct ggccttgaga gaggaaggaa agactagttg cagttactat tctctggtga
1681 gctctgactg gctttttaca aacagggctt ctctttggtt gaagtcagcc actaagttca
1741 tctttaaaca tgctatctca aattccccga agccacccaa aatgtggtat gaatgaggat
1801 agagttacac agaattcaga ctgctttgcc ctctcagaac ttctagggaa cttcccttgg
1861 tgtttccttc cctaacgagc tcagccactt gtaaccagct tattgaaagg gctgtgaatg
1921 tattatgttg attccttttc tgttccaggt tattatcttg ggaataaccc atgttttgtt
1981 ttgttttacc ctcagtcgct cataactatt taaaacagta tctcactttc aagtacagat
2041 gctcctctac ttatggggct atgtctcaat aaactcacgt aagtaaaaaa tatcacaagt
2101 tgaaaacaca tttaataacc ctgataagcc cattgtaaag taggcaaata agttggacca
2161 ttgaaagttg gggactatct gtattttaga agttttttca gcttaaaaat taccaagctc
2221 tatcctactt ggcccagctc agtccttccc ccaggcttag aagcctgtgg taaagagtgt
2281 gtgtatactg gggtgatgat agtggtttct tcttactccc ttctttctgt cttctgctcc
2341 ctttgttcct attcagccat gctgctgttt ctagcccatg taggctctgg gaaaggttaa
2401 gcgggtagaa accagagaaa aagggcaaag tcttatttct gtggctagta atgtcgtaat
2461 gtggggccag gtctgagtga catgtgccga aaggctgact ctttctccca gagcaccttt
2521 tctctctttt tggattcagg gggtacatgt gcaggtttgt tacatgagta tattgcaccc
2581 aggtagtgag catagtgccc agtaagtagt ttttccacac ataccccctc cttcccttcc
2641 cactctggta gtccccagtg tctattgttc ccatcattat gtctatgtgt attcaatgtt
2701 tagctcccac ttagaagtaa gaacatgcaa tatttggttt cctattcctg catcaattca
2761 ctttaggata atggcctcca gctgcatcca tgttgctgca gaatacatga tttcattttt
2821 tatggctgcg tagtattcca tggtgtagat atacttcatt taaaaaatct aatccaccat
2881 tgattggcac ctaggttgat tccatgtcct ttgctcagag ccccgttttg gtgagttctt
2941 agaactcttt ccaaccggaa actgcccagt gcaccactct cagatggacg ggacccagtc
3001 tgtacctgat caccccggct ctaatggtat ggtctccaag gctccttctg atcttcccag
3061 gaggcccttt caggctgaca caccttccag ggtgtgcact ctcgccatgt tctcacccag
3121 atggctctct tggctgtgta attaggcagc tcaatccctt tcctttagac tgtttcaggg
3181 gagaaccagg taccccaaat cttatgctct ccaaactcca ggggacagac acatgtcaaa
3241 ccctgagtct tttaaagtat accctcactt agcttgcaga cccaaggcac tccagcccct
3301 ttcaagaagc ttgcactttc tgatattttc tccatcactc ttgcctcctg tggtagagga
3361 gctttgggct actccttaac aaatcattca tggatcggca gcaaatctgc aacatatgga
3421 aatatttgcc aatttttgtc ctcagctttg ggtctcagcc aaaatggaga tttaggaaag
3481 tctcatttag catcctctag cctgcttttg gctgttttgt tttgtttttg tgtttgtttt
3541 ttagagacag ggtcttgctc tgttgccaga ctggagtgcg gtggtgtgac catggctcac
3601 tgcggcctca aactcctggg ctcatgcgat cctcctgcct cagccttctg agtagctggg
3661 cctgtagtct cagagggaac tgccttcaat aaagttggca ctgtccacat ac
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