(data stored in ACNUC23119 zone)

EMBL: BC012097

ID   BC012097; SV 1; linear; mRNA; STD; HUM; 3082 BP.
XX
AC   BC012097;
XX
DT   07-AUG-2001 (Rel. 68, Created)
DT   15-OCT-2008 (Rel. 97, Last updated, Version 5)
XX
DE   Homo sapiens oculocutaneous albinism II, mRNA (cDNA clone MGC:20070
DE   IMAGE:4641135), complete cds.
XX
KW   MGC.
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]
RP   1-3082
RX   DOI; 10.1073/pnas.242603899.
RX   PUBMED; 12477932.
RG   Mammalian Gene Collection Program Team
RA   Strausberg R.L., Feingold E.A., Grouse L.H., Derge J.G., Klausner R.D.,
RA   Collins F.S., Wagner L., Shenmen C.M., Schuler G.D., Altschul S.F.,
RA   Zeeberg B., Buetow K.H., Schaefer C.F., Bhat N.K., Hopkins R.F., Jordan H.,
RA   Moore T., Max S.I., Wang J., Hsieh F., Diatchenko L., Marusina K.,
RA   Farmer A.A., Rubin G.M., Hong L., Stapleton M., Soares M.B., Bonaldo M.F.,
RA   Casavant T.L., Scheetz T.E., Brownstein M.J., Usdin T.B., Toshiyuki S.,
RA   Carninci P., Prange C., Raha S.S., Loquellano N.A., Peters G.J.,
RA   Abramson R.D., Mullahy S.J., Bosak S.A., McEwan P.J., McKernan K.J.,
RA   Malek J.A., Gunaratne P.H., Richards S., Worley K.C., Hale S., Garcia A.M.,
RA   Gay L.J., Hulyk S.W., Villalon D.K., Muzny D.M., Sodergren E.J., Lu X.,
RA   Gibbs R.A., Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S.,
RA   Sanchez A., Whiting M., Madan A., Young A.C., Shevchenko Y., Bouffard G.G.,
RA   Blakesley R.W., Touchman J.W., Green E.D., Dickson M.C., Rodriguez A.C.,
RA   Grimwood J., Schmutz J., Myers R.M., Butterfield Y.S., Krzywinski M.I.,
RA   Skalska U., Smailus D.E., Schnerch A., Schein J.E., Jones S.J., Marra M.A.;
RT   "Generation and initial analysis of more than 15,000 full-length human and
RT   mouse cDNA sequences";
RL   Proc. Natl. Acad. Sci. U.S.A. 99(26):16899-16903(2002).
XX
RN   [2]
RC   NIH-MGC Project URL: http://mgc.nci.nih.gov
RP   1-3082
RG   NIH MGC Project
RA   ;
RT   ;
RL   Submitted (02-AUG-2001) to the INSDC.
RL   National Institutes of Health, Mammalian Gene Collection (MGC), Bethesda,
RL   MD 20892-2590, USA
XX
DR   MD5; fbdc67735653aa09533a8968268294f3.
DR   Ensembl-Gn; ENSG00000104044; homo_sapiens.
DR   Ensembl-Tr; ENST00000353809; homo_sapiens.
DR   Ensembl-Tr; ENST00000354638; homo_sapiens.
XX
CC   Contact: MGC help desk
CC   Email: cgapbs-r@mail.nih.gov
CC   Tissue Procurement: ATCC/DCTD/DTP
CC   cDNA Library Preparation: Rubin Laboratory
CC   cDNA Library Arrayed by: The I.M.A.G.E. Consortium (LLNL)
CC   DNA Sequencing by: Genome Sequence Centre,
CC   BC Cancer Agency, Vancouver, BC, Canada
CC   info@bcgsc.bc.ca
CC   Martin Hirst, Thomas Zeng, Ryan Morin, Michelle Moksa, Johnson
CC   Pang, Diana Mah, Jing Wang, Kieth Fichter, Eric Chuah, Allen
CC   Delaney, Rob Kirkpatrick, Agnes Baross, Sarah Barber, Mabel
CC   Brown-John, Steve S. Chand, William Chow, Ryan Babakaiff, Dave
CC   Wong, Corey Matsuo, Jaclyn Beland, Susan Gibson, Luis delRio, Ruth
CC   Featherstone, Malachi Griffith, Obi Griffith, Ran Guin, Nancy Liao,
CC   Kim MacDonald,  Mike R. Mayo, Josh Moran, Diana Palmquist, JR
CC   Santos, Duane Smailus, Jeff Stott, Miranda Tsai, George Yang,
CC   Jacquie Schein, Asim Siddiqui,Steven Jones, Rob Holt, Marco Marra.
CC   Clone distribution: MGC clone distribution information can be found
CC   through the I.M.A.G.E. Consortium/LLNL at: http://image.llnl.gov
CC   Series: IRAL Plate: 29 Row: l Column: 19
CC   This clone was selected for full length sequencing because it
CC   passed the following selection criteria: matched mRNA gi: 4557810.
CC   Differences found between this sequence and the human reference
CC   genome (build 36) are described in misc_difference features below
CC   and these differences were also compared to chimpanzee genome
CC   (build 1).
XX
FH   Key             Location/Qualifiers
FH
FT   source          1..3082
FT                   /organism="Homo sapiens"
FT                   /lab_host="DH10B-R"
FT                   /mol_type="mRNA"
FT                   /clone_lib="NIH_MGC_20"
FT                   /clone="MGC:20070 IMAGE:4641135"
FT                   /tissue_type="Skin, melanotic melanoma."
FT                   /note="Vector: pOTB7"
FT                   /db_xref="taxon:9606"
FT   gene            1..3082
FT                   /gene="OCA2"
FT                   /note="synonyms: PED, BOCA, HCL3, SHEP1, BEY, BEY1, BEY2,
FT                   EYCL"
FT   CDS_pept        111..2555
FT                   /codon_start=1
FT                   /gene="OCA2"
FT                   /product="OCA2 protein"
FT                   /db_xref="GOA:Q04671"
FT                   /db_xref="H-InvDB:HIT000035656.18"
FT                   /db_xref="HGNC:HGNC:8101"
FT                   /db_xref="InterPro:IPR004680"
FT                   /db_xref="UniProtKB/Swiss-Prot:Q04671"
FT                   /protein_id="AAH12097.1"
FT                   /translation="MHLEGRDGRRYPGAPAVELLQTSVPSGLAELVAGKRRLPRGAGGA
FT                   DPSHSCPRGAAGQSSWAPAGQEFASFLTKGRSHSSLPQMSSSRSKDSCFTENTPLLRNS
FT                   LQEKGSRCIPVYHPEFITAEESWEDSSADWERRYLLSREVSGLSASASSEKGDLLDSPH
FT                   IRLRLSKLRRCVQWLKVMGLFAFVVLCSILFSLYPDQGKLWQLLALSPLENYSVNLSSH
FT                   VDSTLLQVDLAGALVASGPSRPGREEHIVVELTQADALGSRWRRPQQVTHNWTVYLNPR
FT                   RSEHSVMSRTFEVLTRETVSISIRASLQQTQAVPLLMAHQYLRGSVETQVTIATAILAG
FT                   VYALIIFERPSLTHVVEWIDFETLALLFGMMILVAIFSETGFFDYCAVKAYRLSRGRVW
FT                   AMIIMLCLIAAVLSAFLDNVTTMLLFTPVTIRLCEVLNLDPRQVLIAEVIFTNIGGAAT
FT                   AIGDPPNVIIVSNQELRKMGLDFAGFTAHMFIGICLVLLVCFPLLRLLYWNRKLYNKEP
FT                   SEIVELKHEIHVWRLTAQRISPASREETAVRRLLLGKVLALEHLLARRLHTFHRQISQE
FT                   DKNWETNIQELQKKHRISDGILLAKCLTVLGFVIFMFFLNSFVPGIHLDLGWIAILGAI
FT                   WLLILADIHDFEIILHRVEWATLLFFAALFVLMEALAHLHLIEYVGEQTALLIKMVPEE
FT                   QRLIAAIVLVVWVSALASSLIDNIPFTATMIPVLLNLSHDPEVGLPAPPLMYALAFGAC
FT                   LGGNGTLIGASANVVCAGIAEQHGYGFSFMEFFRLGFPMMVVSCTVGMCYLLVAHVVVG
FT                   WN"
FT   misc_difference 1589
FT                   /gene="OCA2"
FT                   /note="'T' in cDNA is 'C' in the human genome; no amino
FT                   acid change. The chimpanzee genome agrees with the human
FT                   genomic sequence and not the cDNA."
FT   misc_difference 2402
FT                   /gene="OCA2"
FT                   /note="'A' in cDNA is 'G' in the human genome; no amino
FT                   acid change. The chimpanzee genome agrees with the human
FT                   genomic sequence and not the cDNA."
FT   misc_difference 3069..3082
FT                   /gene="OCA2"
FT                   /note="polyA tail: 14 bases do not align to the human
FT                   genome."
XX
SQ   Sequence 3082 BP; 713 A; 789 C; 800 G; 780 T; 0 other;
     cttacttcga aggctgtgct ccgctcacca tccagagcgg aggtgcggac cttaaactca        60
     ctcctggaga aagatctgca agtgcgcaga gagaagactg gcagtggagc atgcatctgg       120
     agggcagaga cggcaggcgg taccccggcg cgccggcggt ggagctcctg cagacgtccg       180
     tgcccagcgg actcgctgaa cttgtggccg gcaagcgcag gcttcctcgg ggagccggtg       240
     gagctgaccc ctcgcactcc tgccccaggg gggctgccgg gcagagctct tgggctcctg       300
     caggccagga gtttgcttca ttcctcacaa aagggaggtc tcactcttct ttgccccaga       360
     tgtccagctc caggtctaaa gattcctgct ttacagaaaa cactcctttg ctgaggaatt       420
     ccttacagga gaaagggtca cggtgcatac ctgtttacca tccagagttc atcactgctg       480
     aagagtcttg ggaagacagc tctgctgact gggagcgaag atacctgcta agcagggagg       540
     tgtctggtct gtctgcatct gcctcctccg agaagggaga ccttctggac agcccgcaca       600
     tccgactccg tctttccaag ctgaggcgct gtgtgcagtg gctgaaagtc atgggcctgt       660
     ttgcctttgt ggtgctgtgt tctattttgt tcagcctata tccggatcaa ggaaagctct       720
     ggcagctgtt ggccttatca ccgctggaga actactccgt gaaccttagc agccacgtgg       780
     actccacgct gctgcaggtg gacctggcag gggccctagt ggccagtggg ccgagtcgtc       840
     ctgggaggga agagcacatc gtggtggagc tgacccaggc tgacgctttg ggctccaggt       900
     ggcggcggcc acagcaggtc actcacaact ggacggtgta tttaaatccg aggagaagcg       960
     agcactcagt gatgagcagg acctttgagg tactgaccag agagacggtg tccatcagca      1020
     tccgggcctc cctgcagcag acccaggctg tccctctttt gatggctcat cagtacctcc      1080
     gcggaagtgt agaaacccag gtgaccatcg cgacggccat cctcgcgggc gtctacgcgc      1140
     tgatcatatt tgagagaccc agcctgaccc atgtggtgga gtggattgat tttgagacgc      1200
     tggccctgct gtttggcatg atgatcttag tagccatatt ttcagaaacg ggatttttcg      1260
     attattgtgc tgtaaaggca taccggctct cccggggacg ggtgtgggcc atgatcatca      1320
     tgctctgtct catcgcggcc gtcctctctg ccttcttgga caacgtcacc accatgctcc      1380
     tcttcacgcc tgtgaccata aggttgtgtg aggtgctcaa ccttgatcca agacaagtcc      1440
     tgattgcaga agtgatcttc acaaacattg gaggagctgc cactgccatc ggggaccctc      1500
     caaatgtcat tattgtttcc aaccaagagc tgaggaagat gggcctggac tttgccggat      1560
     tcactgcaca catgttcatt gggatttgtc ttgttctcct ggtctgcttt ccgctcctca      1620
     gactccttta ctggaacaga aagctttata acaaggaacc cagtgagatt gttgaactga      1680
     agcacgagat tcacgtctgg cgcctgactg ctcagcgcat cagcccggcc agccgcgagg      1740
     agacagctgt gcgccgcctg ctgctgggga aggtgctggc actggagcac ctgctcgccc      1800
     ggaggctgca caccttccac agacagatct cacaggagga caaaaattgg gagaccaata      1860
     tccaagaact ccaaaaaaag cataggatat ctgacgggat tctgctcgcc aaatgcctga      1920
     cagtgttggg atttgttatc ttcatgtttt tcctcaattc gtttgtccct ggcattcatc      1980
     ttgatcttgg atggattgct attctgggtg ccatctggtt gctaatttta gctgatattc      2040
     atgattttga gataattcta cacagagtgg aatgggcaac ccttctgttt tttgcagcgc      2100
     tctttgttct gatggaggca ttggcacatc tccacttaat agaatatgtt ggagaacaaa      2160
     ctgctttgct aataaagatg gtcccagagg agcagcgcct catagccgcc attgtcctgg      2220
     tggtgtgggt ctcagccctg gcgtcgtccc tgattgacaa catcccgttc actgctacca      2280
     tgattcccgt gctcctgaac ctgagccacg accctgaggt tggcctgccc gcaccgccgc      2340
     tcatgtatgc cctggccttc ggtgcttgcc tgggaggtaa cgggacactg attggcgcgt      2400
     cagcaaacgt cgtgtgtgca gggattgcag aacagcatgg atatgggttc tccttcatgg      2460
     aatttttcag gctgggcttc ccaatgatgg ttgtgtcctg cactgttggg atgtgttatc      2520
     tccttgtggc tcatgtggtg gtgggatgga attaatagac atccatctat tgctcgaaga      2580
     ctaaaggaaa cttcatccat cacaacccat tagtcataaa actaccctga ccccactgtt      2640
     tgaagaagaa aaggtgctta ccctggagat gctacagaga cacagtggaa tagaccttga      2700
     cactaacact ctaattcaag cgaatgttgg aacaccatga cctcctctgt gtgtcctttc      2760
     tccccaagga caaaatgtag aaagatgtga gataacttac tcaagattcc cctccagaaa      2820
     aatacgtatg tttaaaaacc cttcctgcta tacataggaa aagacacaca tccacctaaa      2880
     attgactgta ctgtttaact gtcaattctc ctgaggctaa acacagtttg tttttcttgt      2940
     aatcactttt catgttaaaa taatcagcat tcaaattgta tgctttctga atatagactt      3000
     tctgggaaaa ggtttactgc tcgtaaggaa acattttatg tattaaaata aactgttcct      3060
     tgataaaaaa aaaaaaaaaa aa                                               3082
//

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