GGRNA | NM_007374.2

LOCUS       NM_007374               1500 bp    mRNA    linear   PRI 15-JUN-2013
DEFINITION  Homo sapiens SIX homeobox 6 (SIX6), mRNA.
ACCESSION   NM_007374
VERSION     NM_007374.2  GI:186910310
KEYWORDS    RefSeq.
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 1500)
  AUTHORS   Verhoeven,V.J., Hysi,P.G., Wojciechowski,R., Fan,Q.,
            Guggenheim,J.A., Hohn,R., MacGregor,S., Hewitt,A.W., Nag,A.,
            Cheng,C.Y., Yonova-Doing,E., Zhou,X., Ikram,M.K., Buitendijk,G.H.,
            McMahon,G., Kemp,J.P., Pourcain,B.S., Simpson,C.L., Makela,K.M.,
            Lehtimaki,T., Kahonen,M., Paterson,A.D., Hosseini,S.M., Wong,H.S.,
            Xu,L., Jonas,J.B., Parssinen,O., Wedenoja,J., Yip,S.P., Ho,D.W.,
            Pang,C.P., Chen,L.J., Burdon,K.P., Craig,J.E., Klein,B.E.,
            Klein,R., Haller,T., Metspalu,A., Khor,C.C., Tai,E.S., Aung,T.,
            Vithana,E., Tay,W.T., Barathi,V.A., Chen,P., Li,R., Liao,J.,
            Zheng,Y., Ong,R.T., Doring,A., Evans,D.M., Timpson,N.J.,
            Verkerk,A.J., Meitinger,T., Raitakari,O., Hawthorne,F.,
            Spector,T.D., Karssen,L.C., Pirastu,M., Murgia,F., Ang,W.,
            Mishra,A., Montgomery,G.W., Pennell,C.E., Cumberland,P.M.,
            Cotlarciuc,I., Mitchell,P., Wang,J.J., Schache,M.,
            Janmahasathian,S., Igo,R.P. Jr., Lass,J.H., Chew,E., Iyengar,S.K.,
            Gorgels,T.G., Rudan,I., Hayward,C., Wright,A.F., Polasek,O.,
            Vatavuk,Z., Wilson,J.F., Fleck,B., Zeller,T., Mirshahi,A.,
            Muller,C., Uitterlinden,A.G., Rivadeneira,F., Vingerling,J.R.,
            Hofman,A., Oostra,B.A., Amin,N., Bergen,A.A., Teo,Y.Y., Rahi,J.S.,
            Vitart,V., Williams,C., Baird,P.N., Wong,T.Y., Oexle,K.,
            Pfeiffer,N., Mackey,D.A., Young,T.L., van Duijn,C.M., Saw,S.M.,
            Bailey-Wilson,J.E., Stambolian,D., Klaver,C.C. and Hammond,C.J.
  CONSRTM   Consortium for Refractive Error and Myopia (CREAM); Diabetes
            Control and Complications Trial/Epidemiology of Diabetes
            Interventions and Complications (DCCT/EDIC) Research Group;
            Wellcome Trust Case Control Consortium 2 (WTCCC2); Fuchs' Genetics
            Multi-Center Study Group
  TITLE     Genome-wide meta-analyses of multiancestry cohorts identify
            multiple new susceptibility loci for refractive error and myopia
  JOURNAL   Nat. Genet. 45 (3), 314-318 (2013)
   PUBMED   23396134
REFERENCE   2  (bases 1 to 1500)
  AUTHORS   Osman,W., Low,S.K., Takahashi,A., Kubo,M. and Nakamura,Y.
  TITLE     A genome-wide association study in the Japanese population confirms
            9p21 and 14q23 as susceptibility loci for primary open angle
            glaucoma
  JOURNAL   Hum. Mol. Genet. 21 (12), 2836-2842 (2012)
   PUBMED   22419738
REFERENCE   3  (bases 1 to 1500)
  AUTHORS   Wiggs,J.L., Yaspan,B.L., Hauser,M.A., Kang,J.H., Allingham,R.R.,
            Olson,L.M., Abdrabou,W., Fan,B.J., Wang,D.Y., Brodeur,W.,
            Budenz,D.L., Caprioli,J., Crenshaw,A., Crooks,K., Delbono,E.,
            Doheny,K.F., Friedman,D.S., Gaasterland,D., Gaasterland,T.,
            Laurie,C., Lee,R.K., Lichter,P.R., Loomis,S., Liu,Y.,
            Medeiros,F.A., McCarty,C., Mirel,D., Moroi,S.E., Musch,D.C.,
            Realini,A., Rozsa,F.W., Schuman,J.S., Scott,K., Singh,K.,
            Stein,J.D., Trager,E.H., Vanveldhuisen,P., Vollrath,D.,
            Wollstein,G., Yoneyama,S., Zhang,K., Weinreb,R.N., Ernst,J.,
            Kellis,M., Masuda,T., Zack,D., Richards,J.E., Pericak-Vance,M.,
            Pasquale,L.R. and Haines,J.L.
  TITLE     Common variants at 9p21 and 8q22 are associated with increased
            susceptibility to optic nerve degeneration in glaucoma
  JOURNAL   PLoS Genet. 8 (4), E1002654 (2012)
   PUBMED   22570617
REFERENCE   4  (bases 1 to 1500)
  AUTHORS   Lango Allen,H., Estrada,K., Lettre,G., Berndt,S.I., Weedon,M.N.,
            Rivadeneira,F., Willer,C.J., Jackson,A.U., Vedantam,S.,
            Raychaudhuri,S., Ferreira,T., Wood,A.R., Weyant,R.J., Segre,A.V.,
            Speliotes,E.K., Wheeler,E., Soranzo,N., Park,J.H., Yang,J.,
            Gudbjartsson,D., Heard-Costa,N.L., Randall,J.C., Qi,L., Vernon
            Smith,A., Magi,R., Pastinen,T., Liang,L., Heid,I.M., Luan,J.,
            Thorleifsson,G., Winkler,T.W., Goddard,M.E., Sin Lo,K., Palmer,C.,
            Workalemahu,T., Aulchenko,Y.S., Johansson,A., Zillikens,M.C.,
            Feitosa,M.F., Esko,T., Johnson,T., Ketkar,S., Kraft,P., Mangino,M.,
            Prokopenko,I., Absher,D., Albrecht,E., Ernst,F., Glazer,N.L.,
            Hayward,C., Hottenga,J.J., Jacobs,K.B., Knowles,J.W., Kutalik,Z.,
            Monda,K.L., Polasek,O., Preuss,M., Rayner,N.W., Robertson,N.R.,
            Steinthorsdottir,V., Tyrer,J.P., Voight,B.F., Wiklund,F., Xu,J.,
            Zhao,J.H., Nyholt,D.R., Pellikka,N., Perola,M., Perry,J.R.,
            Surakka,I., Tammesoo,M.L., Altmaier,E.L., Amin,N., Aspelund,T.,
            Bhangale,T., Boucher,G., Chasman,D.I., Chen,C., Coin,L.,
            Cooper,M.N., Dixon,A.L., Gibson,Q., Grundberg,E., Hao,K., Juhani
            Junttila,M., Kaplan,L.M., Kettunen,J., Konig,I.R., Kwan,T.,
            Lawrence,R.W., Levinson,D.F., Lorentzon,M., McKnight,B.,
            Morris,A.P., Muller,M., Suh Ngwa,J., Purcell,S., Rafelt,S.,
            Salem,R.M., Salvi,E., Sanna,S., Shi,J., Sovio,U., Thompson,J.R.,
            Turchin,M.C., Vandenput,L., Verlaan,D.J., Vitart,V., White,C.C.,
            Ziegler,A., Almgren,P., Balmforth,A.J., Campbell,H., Citterio,L.,
            De Grandi,A., Dominiczak,A., Duan,J., Elliott,P., Elosua,R.,
            Eriksson,J.G., Freimer,N.B., Geus,E.J., Glorioso,N., Haiqing,S.,
            Hartikainen,A.L., Havulinna,A.S., Hicks,A.A., Hui,J., Igl,W.,
            Illig,T., Jula,A., Kajantie,E., Kilpelainen,T.O., Koiranen,M.,
            Kolcic,I., Koskinen,S., Kovacs,P., Laitinen,J., Liu,J., Lokki,M.L.,
            Marusic,A., Maschio,A., Meitinger,T., Mulas,A., Pare,G.,
            Parker,A.N., Peden,J.F., Petersmann,A., Pichler,I.,
            Pietilainen,K.H., Pouta,A., Ridderstrale,M., Rotter,J.I.,
            Sambrook,J.G., Sanders,A.R., Schmidt,C.O., Sinisalo,J., Smit,J.H.,
            Stringham,H.M., Bragi Walters,G., Widen,E., Wild,S.H.,
            Willemsen,G., Zagato,L., Zgaga,L., Zitting,P., Alavere,H.,
            Farrall,M., McArdle,W.L., Nelis,M., Peters,M.J., Ripatti,S., van
            Meurs,J.B., Aben,K.K., Ardlie,K.G., Beckmann,J.S., Beilby,J.P.,
            Bergman,R.N., Bergmann,S., Collins,F.S., Cusi,D., den Heijer,M.,
            Eiriksdottir,G., Gejman,P.V., Hall,A.S., Hamsten,A., Huikuri,H.V.,
            Iribarren,C., Kahonen,M., Kaprio,J., Kathiresan,S., Kiemeney,L.,
            Kocher,T., Launer,L.J., Lehtimaki,T., Melander,O., Mosley,T.H. Jr.,
            Musk,A.W., Nieminen,M.S., O'Donnell,C.J., Ohlsson,C., Oostra,B.,
            Palmer,L.J., Raitakari,O., Ridker,P.M., Rioux,J.D., Rissanen,A.,
            Rivolta,C., Schunkert,H., Shuldiner,A.R., Siscovick,D.S.,
            Stumvoll,M., Tonjes,A., Tuomilehto,J., van Ommen,G.J., Viikari,J.,
            Heath,A.C., Martin,N.G., Montgomery,G.W., Province,M.A., Kayser,M.,
            Arnold,A.M., Atwood,L.D., Boerwinkle,E., Chanock,S.J., Deloukas,P.,
            Gieger,C., Gronberg,H., Hall,P., Hattersley,A.T., Hengstenberg,C.,
            Hoffman,W., Lathrop,G.M., Salomaa,V., Schreiber,S., Uda,M.,
            Waterworth,D., Wright,A.F., Assimes,T.L., Barroso,I., Hofman,A.,
            Mohlke,K.L., Boomsma,D.I., Caulfield,M.J., Cupples,L.A.,
            Erdmann,J., Fox,C.S., Gudnason,V., Gyllensten,U., Harris,T.B.,
            Hayes,R.B., Jarvelin,M.R., Mooser,V., Munroe,P.B., Ouwehand,W.H.,
            Penninx,B.W., Pramstaller,P.P., Quertermous,T., Rudan,I.,
            Samani,N.J., Spector,T.D., Volzke,H., Watkins,H., Wilson,J.F.,
            Groop,L.C., Haritunians,T., Hu,F.B., Kaplan,R.C., Metspalu,A.,
            North,K.E., Schlessinger,D., Wareham,N.J., Hunter,D.J.,
            O'Connell,J.R., Strachan,D.P., Wichmann,H.E., Borecki,I.B., van
            Duijn,C.M., Schadt,E.E., Thorsteinsdottir,U., Peltonen,L.,
            Uitterlinden,A.G., Visscher,P.M., Chatterjee,N., Loos,R.J.,
            Boehnke,M., McCarthy,M.I., Ingelsson,E., Lindgren,C.M.,
            Abecasis,G.R., Stefansson,K., Frayling,T.M. and Hirschhorn,J.N.
  TITLE     Hundreds of variants clustered in genomic loci and biological
            pathways affect human height
  JOURNAL   Nature 467 (7317), 832-838 (2010)
   PUBMED   20881960
REFERENCE   5  (bases 1 to 1500)
  AUTHORS   Zhang,X., Li,S., Xiao,X., Jia,X., Wang,P., Shen,H., Guo,X. and
            Zhang,Q.
  TITLE     Mutational screening of 10 genes in Chinese patients with
            microphthalmia and/or coloboma
  JOURNAL   Mol. Vis. 15, 2911-2918 (2009)
   PUBMED   20057906
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1500)
  AUTHORS   Gallardo,M.E., Rodriguez De Cordoba,S., Schneider,A.S., Dwyer,M.A.,
            Ayuso,C. and Bovolenta,P.
  TITLE     Analysis of the developmental SIX6 homeobox gene in patients with
            anophthalmia/microphthalmia
  JOURNAL   Am. J. Med. Genet. A 129A (1), 92-94 (2004)
   PUBMED   15266624
REFERENCE   7  (bases 1 to 1500)
  AUTHORS   Lopez-Rios,J., Tessmar,K., Loosli,F., Wittbrodt,J. and Bovolenta,P.
  TITLE     Six3 and Six6 activity is modulated by members of the groucho
            family
  JOURNAL   Development 130 (1), 185-195 (2003)
   PUBMED   12441302
REFERENCE   8  (bases 1 to 1500)
  AUTHORS   Forconi,F., Sahota,S.S., Raspadori,D., Mockridge,C.I., Lauria,F.
            and Stevenson,F.K.
  TITLE     Tumor cells of hairy cell leukemia express multiple clonally
            related immunoglobulin isotypes via RNA splicing
  JOURNAL   Blood 98 (4), 1174-1181 (2001)
   PUBMED   11493467
REFERENCE   9  (bases 1 to 1500)
  AUTHORS   Gallardo,M.E., Lopez-Rios,J., Fernaud-Espinosa,I., Granadino,B.,
            Sanz,R., Ramos,C., Ayuso,C., Seller,M.J., Brunner,H.G.,
            Bovolenta,P. and Rodriguez de Cordoba,S.
  TITLE     Genomic cloning and characterization of the human homeobox gene
            SIX6 reveals a cluster of SIX genes in chromosome 14 and associates
            SIX6 hemizygosity with bilateral anophthalmia and pituitary
            anomalies
  JOURNAL   Genomics 61 (1), 82-91 (1999)
   PUBMED   10512683
REFERENCE   10 (bases 1 to 1500)
  AUTHORS   Lopez-Rios,J., Gallardo,M.E., Rodriguez de Cordoba,S. and
            Bovolenta,P.
  TITLE     Six9 (Optx2), a new member of the six gene family of transcription
            factors, is expressed at early stages of vertebrate ocular and
            pituitary development
  JOURNAL   Mech. Dev. 83 (1-2), 155-159 (1999)
   PUBMED   10381575
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC065831.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 29, 2008 this sequence version replaced gi:6677978.
            
            Summary: The protein encoded by this gene is a homeobox protein
            that is similar to the Drosophila 'sine oculis' gene product. This
            gene is found in a cluster of related genes on chromosome 14 and is
            thought to be involved in eye development. Defects in this gene are
            a cause of isolated microphthalmia with cataract type 2 (MCOPCT2).
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC065831.1, BC087852.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1500
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q23.1"
     gene            1..1500
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /note="SIX homeobox 6"
                     /db_xref="GeneID:4990"
                     /db_xref="HGNC:10892"
                     /db_xref="MIM:606326"
     exon            1..751
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /inference="alignment:Splign:1.39.8"
     variation       8
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:74560962"
     variation       9
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:74727883"
     variation       19
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1956558"
     STS             87..1158
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /db_xref="UniSTS:486210"
     STS             97..1009
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /db_xref="UniSTS:481851"
     variation       116
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148591528"
     variation       119
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:183248571"
     CDS             180..920
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /note="optic homeobox 2; homeodomain protein OPTX2; sine
                     oculis homeobox homolog 6"
                     /codon_start=1
                     /product="homeobox protein SIX6"
                     /protein_id="NP_031400.2"
                     /db_xref="GI:186910311"
                     /db_xref="CCDS:CCDS9747.1"
                     /db_xref="GeneID:4990"
                     /db_xref="HGNC:10892"
                     /db_xref="MIM:606326"
                     /translation="

MFQLPILNFSPQQVAGVCETLEESGDVERLGRFLWSLPVAPAACEALNKNESVLRARAIVAFHGGNYRELYHILENHKFTKESHAKLQALWLEAHYQEAEKLRGRPLGPVDKYRVRKKFPLPRTIWDGEQKTHCFKERTRHLLREWYLQDPYPNPSKKRELAQATGLTPTQVGNWFKNRRQRDRAAAAKNRLQQQVLSQGSGRALRAEGDGTPEVLGVATSPAASLSSKAATSAISITSSDSECDI

"
     misc_feature    567..731
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /note="Homeodomain;  DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; Region:
                     homeodomain; cd00086"
                     /db_xref="CDD:28970"
     misc_feature    order(567..578,582..584,633..635,651..653,690..692,
                     696..701,708..713,717..725,729..731)
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(570..572,579..581,699..701,708..713,720..722)
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     misc_feature    813..815
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphothreonine; propagated from
                     UniProtKB/Swiss-Prot (O95475.2); phosphorylation site"
     misc_feature    840..842
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (O95475.2); phosphorylation site"
     misc_feature    852..854
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (O95475.2); phosphorylation site"
     misc_feature    858..860
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (O95475.2); phosphorylation site"
     misc_feature    861..863
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (O95475.2); phosphorylation site"
     STS             186..892
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /standard_name="Six6"
                     /db_xref="UniSTS:527037"
     variation       189
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:372811052"
     variation       196
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199904203"
     variation       197
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150715226"
     variation       200
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:61746410"
     variation       293
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:185399510"
     variation       302
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149884327"
     variation       322
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146507408"
     variation       339
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:200859196"
     variation       353
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201838922"
     variation       395
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:201846510"
     variation       456
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="c"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:78954112"
     variation       473
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143371520"
     variation       564
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146737847"
     variation       568
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367714528"
     variation       592
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:112601907"
     variation       597
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:142958302"
     variation       600
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:33912345"
     variation       672
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:104894480"
     variation       691
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:57656073"
     variation       712..713
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace=""
                     /replace="aaac"
                     /db_xref="dbSNP:374116347"
     variation       712
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:78978726"
     variation       732
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370851549"
     exon            752..1475
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /inference="alignment:Splign:1.39.8"
     variation       787
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201991012"
     variation       793
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:45549246"
     variation       795
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:148118869"
     variation       800
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140916124"
     variation       801
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146372482"
     variation       814
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:202029915"
     variation       815
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:140601427"
     variation       816
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201560655"
     variation       830
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368912930"
     variation       833
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:34787514"
     variation       846
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372216093"
     variation       850
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200339406"
     variation       916
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:114981075"
     variation       1021
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1061108"
     variation       1078
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:112613456"
     variation       1079
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:111334328"
     variation       1299..1300
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:201479257"
     variation       1308
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:79034770"
     variation       1310
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:78647807"
     variation       1434
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; OPTX2; Six9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:182508813"
ORIGIN

ctcctccagtcggggtcgtccgctcccggccgttgagccaccgccgccacccggtagtgtgtcccgctgccccaatccgcctcatcaacaagcgcctggcacactcagccaggcccgcgggcatctgctgcgtgtcccgctccgggctcagtgccctcgccgccgccggcactgcctcgatgttccagctgcccatcttgaatttcagcccccagcaagtggccggggtatgtgagaccctggaagagagcggcgatgtggagcgcctgggtcgcttcctctggtcgctgcccgtggcccctgcggcctgcgaggccctcaacaagaatgagtcggtgctacgcgcacgagccatcgtggcctttcacggtggcaactaccgcgagctctatcatatcctggaaaaccacaagttcaccaaggagtcgcacgccaagctgcaggcgctgtggcttgaagcacactaccaggaggctgagaagctgcgtggaagacccctgggacctgtggacaagtaccgagtaaggaagaagttcccgctgccgcgcaccatttgggacggcgaacagaagacacactgcttcaaggagcgcacgcggcacctgctacgcgagtggtacctgcaggatccataccctaaccccagcaaaaaacgtgagctcgcccaggcaaccggactgacccctacgcaggtgggcaactggttcaaaaaccgccgacaaagggaccgagcggctgcagccaagaacagactccagcagcaggtcctgtcacagggttccgggcgggcactacgggcggagggcgacggcacgccagaggtgctgggcgtcgccaccagcccggccgccagtctatccagcaaggcggccacttcagccatctccatcacgtccagcgacagcgagtgcgacatctgagttgcccatccaggatgctcagaagcagattccagtgtaaaaacgagaaaaacaaaatgaaagaggggaagaagatgagagacctgcaaatccagcgccacagaagccaggtgaccagggacccgcgggctcgggttgccgtttcccgccccaccccgcggccggcctggcttcactggcgccctttggccgcgaccacgggaaccagcggtgaggcctgacccagcaccacgttcttcttgctttgctttttcctaaggattttgctgcaaagtctccttcggaacccgaactgcaagctgagcgcctgcccagattctcccatgggtatttcacgtcgaaaggacgctgttacatatgtataactttcgctttaaagtttttttttaacaaaacatatatatgctgtttatttacttatttaagagaccgccatggtaggtttctctgtagcttggggaacttgctgtttctaaacatgcaggctggtggtgatgggttctgtgtggagaagccaaacaataaaacaacctagtgggcaaccttcttaattaaaaaaaaaaaaaaaaaaaaaaaaaaa

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