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2025-05-09 20:02:43, 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 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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