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2024-03-29 07:20:40, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_152551               4173 bp    mRNA    linear   PRI 15-JUN-2013
DEFINITION  Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12)
            (SNRNP48), mRNA.
ACCESSION   NM_152551
VERSION     NM_152551.3  GI:71143122
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 4173)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS ONE 7 (12), E51954 (2012)
   PUBMED   23251661
REFERENCE   2  (bases 1 to 4173)
  AUTHORS   Tidow,H., Andreeva,A., Rutherford,T.J. and Fersht,A.R.
  TITLE     Solution structure of the U11-48K CHHC zinc-finger domain that
            specifically binds the 5' splice site of U12-type introns
  JOURNAL   Structure 17 (2), 294-302 (2009)
   PUBMED   19217400
  REMARK    GeneRIF: A model in which the U11-48K Zn finger stabilizes U11-5'
            splice site base pairing and thus plays an important role during
            the minor spliceosome assembly.
REFERENCE   3  (bases 1 to 4173)
  AUTHORS   Turunen,J.J., Will,C.L., Grote,M., Luhrmann,R. and Frilander,M.J.
  TITLE     The U11-48K protein contacts the 5' splice site of U12-type introns
            and the U11-59K protein
  JOURNAL   Mol. Cell. Biol. 28 (10), 3548-3560 (2008)
   PUBMED   18347052
  REMARK    GeneRIF: RNA interference-induced knockdown of 48K led to reduced
            cell growth and the inhibition of U12-type splicing, as well as the
            activation of cryptic, U2-type splice sites, suggesting that 48K
            plays a critical role in U12-type intron recognition.
REFERENCE   4  (bases 1 to 4173)
  AUTHORS   Will,C.L., Schneider,C., Hossbach,M., Urlaub,H., Rauhut,R.,
            Elbashir,S., Tuschl,T. and Luhrmann,R.
  TITLE     The human 18S U11/U12 snRNP contains a set of novel proteins not
            found in the U2-dependent spliceosome
  JOURNAL   RNA 10 (6), 929-941 (2004)
   PUBMED   15146077
REFERENCE   5  (bases 1 to 4173)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL832462.1, BC062458.1 and AL390026.1.
            On Jul 26, 2005 this sequence version replaced gi:33457354.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL832462.1, BC114631.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025081, ERS025082 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-616               AL832462.1         2-617
            617-975             BC062458.1         579-937
            976-1488            AL832462.1         977-1489
            1489-4173           AL390026.1         10366-13050
FEATURES             Location/Qualifiers
     source          1..4173
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24.3"
     gene            1..4173
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /note="small nuclear ribonucleoprotein 48kDa (U11/U12)"
                     /db_xref="GeneID:154007"
                     /db_xref="HGNC:21368"
     exon            1..215
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /inference="alignment:Splign:1.39.8"
     variation       30
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200922693"
     variation       36
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371319235"
     variation       39
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374224446"
     variation       53
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:377738589"
     variation       56
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371222790"
     variation       57
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:371171013"
     CDS             60..1079
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /note="U11/U12 snRNP 48K; U11/U12-48K; U11/U12 snRNP 48
                     kDa protein"
                     /codon_start=1
                     /product="U11/U12 small nuclear ribonucleoprotein 48 kDa
                     protein"
                     /protein_id="NP_689764.3"
                     /db_xref="GI:71143123"
                     /db_xref="CCDS:CCDS4502.1"
                     /db_xref="GeneID:154007"
                     /db_xref="HGNC:21368"
                     /translation="
MEGEPPPVEERRRLQEELNEFVESGCRTLEEVTASLGWDLDSLDPGEEEAAEDEVVICPYDSNHHMPKSSLAKHMASCRLRKMGYTKEEEDEMYNPEFFYENVKIPSITLNKDSQFQIIKQARTAVGKDSDCYNQRIYSSLPVEVPLNHKRFVCDLTQADRLALYDFVVEETKKKRSDSQIIENDSDLFVDLAAKINQDNSRKSPKSYLEILAEVRDYKRRRQSYRAKNVHITKKSYTEVIRDVINVHMEELSNHWQEEQEKAEDDAEKNEERRSASVDSRQSGGSYLDAECSRHRRDRSRSPHKRKRNKDKDKNCESRRRKERDGERHHSHKRRKQKI
"
     misc_feature    219..296
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /note="U11-48K-like CHHC zinc finger; Region: zf-U11-48K;
                     pfam05253"
                     /db_xref="CDD:191243"
     variation       67
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145562523"
     variation       71
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147784961"
     variation       84
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:139605648"
     variation       85
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:145014878"
     variation       86
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:150941144"
     variation       95
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140872952"
     variation       103
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:80051232"
     variation       163
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150160155"
     variation       188
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:6908742"
     variation       193
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2757594"
     variation       205
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:199829988"
     variation       211
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199512188"
     exon            216..329
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /inference="alignment:Splign:1.39.8"
     variation       239
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:9502621"
     variation       247
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140320629"
     variation       287
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199899360"
     variation       309
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:145456775"
     exon            330..390
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /inference="alignment:Splign:1.39.8"
     variation       359
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:377226373"
     exon            391..465
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /inference="alignment:Splign:1.39.8"
     variation       404
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:186304021"
     variation       450
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138316982"
     exon            466..654
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /inference="alignment:Splign:1.39.8"
     variation       475
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:150093632"
     variation       480
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199992195"
     variation       528
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:368220476"
     variation       540
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:183544051"
     variation       541
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143226311"
     variation       560
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148291598"
     variation       561
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141422613"
     variation       567..569
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace=""
                     /replace="gag"
                     /db_xref="dbSNP:377281502"
     variation       599
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372240701"
     variation       617
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3734586"
     exon            655..776
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /inference="alignment:Splign:1.39.8"
     variation       656
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:9502622"
     variation       660
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143987188"
     variation       663
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375401098"
     variation       665
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:35681346"
     variation       727
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:369422305"
     variation       764
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147309123"
     variation       773
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:139545117"
     exon            777..865
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /inference="alignment:Splign:1.39.8"
     variation       783
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149913039"
     variation       811
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:200161152"
     variation       836
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369478881"
     variation       855
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:374532079"
     variation       856
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377477246"
     variation       860
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143965066"
     exon            866..1030
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /inference="alignment:Splign:1.39.8"
     variation       866
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371603226"
     variation       878
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148603413"
     variation       900
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142066516"
     variation       901
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3823184"
     variation       916
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:151210025"
     variation       931
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140454253"
     variation       996
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:144092816"
     variation       1013
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:139179081"
     exon            1031..4173
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1090
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1535434"
     variation       1113
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:7450372"
     variation       1269
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:41302887"
     variation       1274
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:193248865"
     variation       1290
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:141176884"
     variation       1333
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:185703876"
     variation       1412
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:41302889"
     variation       1489
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1539537"
     variation       1607
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:144976693"
     variation       1680
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:151118523"
     variation       1752
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:190664839"
     variation       1891..1892
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:140855940"
     variation       1932
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:181490042"
     variation       2009
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:2757598"
     variation       2026
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:185384179"
     variation       2039
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:141078418"
     variation       2085
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:77700971"
     variation       2179
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:370990360"
     variation       2222
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:188549910"
     variation       2330
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:17339296"
     variation       2384
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:150250166"
     variation       2407
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:181389875"
     variation       2459
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2806218"
     variation       2500
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138906484"
     variation       2575
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:148976933"
     variation       2778
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:62388102"
     variation       2790
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1044764"
     variation       2865
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:371049493"
     variation       2896..2907
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace=""
                     /replace="attgaaaatgtt"
                     /db_xref="dbSNP:66604210"
     variation       2897..2908
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace=""
                     /replace="ttgaaaatgtta"
                     /db_xref="dbSNP:71641689"
     variation       2906
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:201866260"
     variation       2907
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:200335855"
     variation       2963
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:185230707"
     variation       2975
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:190039964"
     variation       2980..2981
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:34167194"
     variation       3010
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:182359296"
     variation       3025
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:187016909"
     variation       3042
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1044767"
     variation       3076
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145733713"
     variation       3082
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:138314912"
     variation       3091
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:41302891"
     variation       3100
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:200751993"
     variation       3101
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:10717454"
     variation       3328
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2806217"
     variation       3345
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:61336291"
     variation       3410
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:142775421"
     STS             3450..3496
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /standard_name="G38154"
                     /db_xref="UniSTS:53341"
     variation       3579
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370139376"
     variation       3611
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146050206"
     variation       3662
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374343525"
     variation       3743
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:41302893"
     STS             3803..3906
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /standard_name="SHGC-36217"
                     /db_xref="UniSTS:40836"
     variation       3839
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:76573010"
     variation       3890
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:78382609"
     variation       3933
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:116102204"
     variation       3966..3971
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace=""
                     /replace="tttctg"
                     /db_xref="dbSNP:146960918"
     variation       3970..3975
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace=""
                     /replace="gaaaca"
                     /db_xref="dbSNP:4212"
     variation       3971..3976
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace=""
                     /replace="gtttct"
                     /db_xref="dbSNP:57510733"
     variation       3971
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace=""
                     /replace="tttctg"
                     /db_xref="dbSNP:71998629"
     variation       4011
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1044761"
     STS             4030..4159
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /standard_name="WI-12266"
                     /db_xref="UniSTS:49499"
     variation       4058
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:192383425"
     polyA_signal    4147..4152
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
     variation       4157
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141802924"
     variation       4158
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150585679"
     variation       4168
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:115197614"
     polyA_site      4171
                     /gene="SNRNP48"
                     /gene_synonym="C6orf151; dJ336K20B.1; dJ512B11.2"
ORIGIN      
gaggcctgcgcgtgcggtctgcagttcggccgcttcctcttggcgggtgggctgcagctatggagggcgagcctccacctgtggaggagcggcggcggctgcaggaggagctgaacgagttcgtggagagcggctgccggacgttggaggaggtgaccgcgtccctgggctgggacctagatagtctggatcccggggaagaggaggcggcggaggatgaagttgtgatatgtccatacgattccaatcatcacatgcctaaatcatctttggcaaagcacatggcatcttgtagattgaggaaaatgggctataccaaagaagaagaggatgaaatgtataatcctgagtttttctatgaaaatgtgaagataccttcgattactttgaataaggactcacaattccagataattaaacaagctagaactgcagttgggaaagacagtgattgttataatcaaagaatttattcttcattgcctgttgaagttcctttgaatcacaaacggtttgtttgtgatctaactcaagctgatcgtcttgccctctatgatttcgtagttgaggagacaaagaaaaagcgctctgattctcaaattattgaaaatgacagcgatctctttgtagacttggctgccaaaatcaatcaagacaatagtcgaaaaagtccaaaatcctaccttgaaatcctggcagaagtacgagattataaaagaagacgccagtcctatagagccaagaatgttcacataaccaagaaatcatatactgaggtgattcgagatgtgataaatgtgcacatggaagaactcagcaatcattggcaagaagagcaagagaaggcagaggatgatgccgaaaagaatgaagaaaggcgatcagcttcagtagattcacggcagtctggtggaagctatttggatgctgagtgttcacgacatagaagggataggagtagaagcccacataaaagaaaaagaaacaaagataaggataaaaactgtgagtcgagaagaaggaaagagagggatggggaaagacaccatagtcataaaagaagaaagcaaaaaatataaatgaagtacttgtacctatattaattatgcttacgccatgataaccaatatacagatatattaattggaattcctttgcataggagaatgtttttatgatctgtttagtgcttattattttttttatgatctgtttagtgcttattattttccagtaaatatgcttcaaaccatgagtacactattaggccctacaactttgttttccttatattttattagatgatttgcttcctataactgatgttgttttgttcgttttgctaatatatgtatctcaaaattctttaagtcaatatttatcatatgtaaattaaacatgaatacattctcatcttataactacatcttataaataaggctaataacccttagaacaccacctgcggttctgtcctcaccccagtggtgactactgtttaccactacactggtgaattgtagtagggaaaaacaatctaaatattgaagaggaatggcctaattaaaatatgatgtagtcataggatagattattgtattggagttaaaagaaataatctagatccatattaacctggattggtctcaaaaacataatgctcagtgaaaatagcaagttgtagaaagttatatacaaattatatatatgtacaaaacaatactatgcattctctatggctatataatgtacgtaaatctatttttaaaggttcagaggaatccataccaaagttctaacagcgagtaggaggtatagatgagagattaggggtgcaaatcaggattgggagggtggtcagagggaactttagctttatccataacattaatttttttaaaaaataaggtcttaatgtttcatttaatttaaaatatactgtcatgttgtgttttgtaaatcaactgaattgaggtactatttacttagatttattgcaccctttttacgtgtgtattttattgggttttgacagattcatacctctgtgcagccactatcacgatcaagatacaaatattttcattgcccccaaaattctcataccccctttcccaatcaattcctctacccctagccctaggcagccacagatttgcttttggttaccgattagatctatccattgtagaattcatgtaaatagaatactgtagtatgtactttgccttcttcctctctgcagatttttgagattgatccctgtgtgtcagttgtgcattttttttgttgctgagtagtatgttctatcttatgtcagatcattcacgtgagactttggcatgaaatgttaagcatccgacatctaaatagcaatattttgaatactggaaactcaggttaaagattttgtttccaagtagaaatgaaatcttattattttaataagtagctgacagtgacagaaagattggatttggatcagattggctgttaggcttcaggtatgggaaacagctctcagatttataaattggaaatcaccaggttacttgccaatatatagtcatattgctgccattgtacttaatttctaaatatataaaatccacatttaaaaattataaaagcaaggacttgggagtgactgatgaatcatgaaattgctgcttttatagatcaaaactacttgaatcatcaggaatttcatatttttcatattgtgtgacaacttataattttgtttcaaattgtgatttcattgattttactaactggaaggaagaagagtaaaattggcatatttaggttttttgtagaagaaagatacaagtgaaaattaggagtggattggagaaattggggggaaatagaagagtacggagaaaggaagagattgaaaatgttaccagagttctttaaagctcacattttatagtatcactgctacaaactatttaatgaaatgtggcatcgggtgaaaagaggcatttgtttgatccttgaacgaattaatctcacgtacttccctgtttgtggtttgagcctttcactggatgtgagctacttgagagcagggtttatgccttcatcagcgtgacccctgtgcctgcagcctcataggtgttaatctgtaattttaaattttgacaaaagcattttcacagccctgccacataagatctagtttttatttctagagtgctgctatgaataattactatagctgctgtccatcttgcccatccattaaggtaccttctcacaaacatttctaatctactggctggagtgcagtggtgcagtctgtagctcactgcagcctcaaactcctaggctcaggcgatcctcttgccctggcctcccatgtagctgcaactataggtgtgtgccactacacctggctaatgtttttagttttttagagatggagtcttgctctgttgcctaggctggtcttgaactcctgggctcagatgatcctcctgtcctcagcctcccaaaatgctgggagccaccaggcaccaggtgtgatctaccacacctgtctaaaaagtatgtatttttaaatttttttgtagagacaggatctcactatgttctccagctggtctcaagctcctggcctcggcctcctaaagtgctgggattacaagtgtgagccactgtgcctagtcactttaattgagatattggcaagtcaactgccatgcagagcccagggcactggttatattcagtaggaaactgaactcagcactcagaattttaaattaaatcaatgatcttcaagtatttgccactttcgagtacagctaattggataatctcaaaccctttagtgaaaatatcttaaatgcattgagaatattttctaattacctgtgtatgctacagtacagacattaattctataaacatgttcataggtcttccccctcgccccgcccgtcttctaagggcattttctgtttctttttagtgagttcatgaatgtttaacggttctggcgcaaagctttcttgcattctgagcataaaaataataaaacccacttatatttgcttgagtgtgtttacaagtcaatttccttttatgtagcttgctttttcatttgctataattgatcctgcaggtgtgtgaattattaaactaacgctcttttaaaccaca
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:154007 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA
            GeneID:154007 -> Biological process: GO:0006397 [mRNA processing] evidence: IEA
            GeneID:154007 -> Biological process: GO:0008380 [RNA splicing] evidence: IC
            GeneID:154007 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
            GeneID:154007 -> Cellular component: GO:0005689 [U12-type spliceosomal complex] evidence: IDA
            GeneID:154007 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
            GeneID:154007 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA

by @meso_cacase at DBCLS
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