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2024-04-27 03:46:21, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001276464            4787 bp    mRNA    linear   PRI 17-JUN-2013
DEFINITION  Homo sapiens nuclear receptor subfamily 5, group A, member 2
            (NR5A2), transcript variant 3, mRNA.
ACCESSION   NM_001276464
VERSION     NM_001276464.1  GI:451172093
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 4787)
  AUTHORS   Talamillo,A., Herboso,L., Pirone,L., Perez,C., Gonzalez,M.,
            Sanchez,J., Mayor,U., Lopitz-Otsoa,F., Rodriguez,M.S.,
            Sutherland,J.D. and Barrio,R.
  TITLE     Scavenger receptors mediate the role of SUMO and Ftz-f1 in
            Drosophila steroidogenesis
  JOURNAL   PLoS Genet. 9 (4), E1003473 (2013)
   PUBMED   23637637
REFERENCE   2  (bases 1 to 4787)
  AUTHORS   Kawabe,S., Yazawa,T., Kanno,M., Usami,Y., Mizutani,T., Imamichi,Y.,
            Ju,Y., Matsumura,T., Orisaka,M. and Miyamoto,K.
  TITLE     A novel isoform of liver receptor homolog-1 is regulated by
            steroidogenic factor-1 and the specificity protein family in
            ovarian granulosa cells
  JOURNAL   Endocrinology 154 (4), 1648-1660 (2013)
   PUBMED   23471216
  REMARK    GeneRIF: Expression of human LRH-1 is regulated in a
            tissue-specific manner, and that the novel promoter region is
            controlled by the Sp-family, NR5A-family and PGC-1alpha in ovarian
            granulosa cells in a coordinated fashion.
REFERENCE   3  (bases 1 to 4787)
  AUTHORS   Kir,S., Zhang,Y., Gerard,R.D., Kliewer,S.A. and Mangelsdorf,D.J.
  TITLE     Nuclear receptors HNF4alpha and LRH-1 cooperate in regulating
            Cyp7a1 in vivo
  JOURNAL   J. Biol. Chem. 287 (49), 41334-41341 (2012)
   PUBMED   23038264
  REMARK    GeneRIF: HNF4alpha and LRH-1 promote active transcription histone
            marks on the Cyp7a1 promoter that are reversed by FGF19 in a
            SHP-dependent manner
REFERENCE   4  (bases 1 to 4787)
  AUTHORS   Jostins,L., Ripke,S., Weersma,R.K., Duerr,R.H., McGovern,D.P.,
            Hui,K.Y., Lee,J.C., Schumm,L.P., Sharma,Y., Anderson,C.A.,
            Essers,J., Mitrovic,M., Ning,K., Cleynen,I., Theatre,E.,
            Spain,S.L., Raychaudhuri,S., Goyette,P., Wei,Z., Abraham,C.,
            Achkar,J.P., Ahmad,T., Amininejad,L., Ananthakrishnan,A.N.,
            Andersen,V., Andrews,J.M., Baidoo,L., Balschun,T., Bampton,P.A.,
            Bitton,A., Boucher,G., Brand,S., Buning,C., Cohain,A., Cichon,S.,
            D'Amato,M., De Jong,D., Devaney,K.L., Dubinsky,M., Edwards,C.,
            Ellinghaus,D., Ferguson,L.R., Franchimont,D., Fransen,K.,
            Gearry,R., Georges,M., Gieger,C., Glas,J., Haritunians,T., Hart,A.,
            Hawkey,C., Hedl,M., Hu,X., Karlsen,T.H., Kupcinskas,L.,
            Kugathasan,S., Latiano,A., Laukens,D., Lawrance,I.C., Lees,C.W.,
            Louis,E., Mahy,G., Mansfield,J., Morgan,A.R., Mowat,C., Newman,W.,
            Palmieri,O., Ponsioen,C.Y., Potocnik,U., Prescott,N.J.,
            Regueiro,M., Rotter,J.I., Russell,R.K., Sanderson,J.D., Sans,M.,
            Satsangi,J., Schreiber,S., Simms,L.A., Sventoraityte,J.,
            Targan,S.R., Taylor,K.D., Tremelling,M., Verspaget,H.W., De Vos,M.,
            Wijmenga,C., Wilson,D.C., Winkelmann,J., Xavier,R.J., Zeissig,S.,
            Zhang,B., Zhang,C.K., Zhao,H., Silverberg,M.S., Annese,V.,
            Hakonarson,H., Brant,S.R., Radford-Smith,G., Mathew,C.G.,
            Rioux,J.D., Schadt,E.E., Daly,M.J., Franke,A., Parkes,M.,
            Vermeire,S., Barrett,J.C. and Cho,J.H.
  CONSRTM   International IBD Genetics Consortium (IIBDGC)
  TITLE     Host-microbe interactions have shaped the genetic architecture of
            inflammatory bowel disease
  JOURNAL   Nature 491 (7422), 119-124 (2012)
   PUBMED   23128233
REFERENCE   5  (bases 1 to 4787)
  AUTHORS   Sung,B., Do,H.J., Park,S.W., Huh,S.H., Oh,J.H., Chung,H.J.,
            Kang,M.J., Kim,J.H., Kim,N.H. and Kim,J.H.
  TITLE     Regulation of OCT4 gene expression by liver receptor homolog-1 in
            human embryonic carcinoma cells
  JOURNAL   Biochem. Biophys. Res. Commun. 427 (2), 315-320 (2012)
   PUBMED   23000165
  REMARK    GeneRIF: this study indicates that LRH-1 acts as a transcriptional
            activator in the regulation of OCT4 gene expression through the
            cooperative interaction with three binding sites directly or/and
            indirectly.
REFERENCE   6  (bases 1 to 4787)
  AUTHORS   Nitta,M., Ku,S., Brown,C., Okamoto,A.Y. and Shan,B.
  TITLE     CPF: an orphan nuclear receptor that regulates liver-specific
            expression of the human cholesterol 7alpha-hydroxylase gene
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 96 (12), 6660-6665 (1999)
   PUBMED   10359768
REFERENCE   7  (bases 1 to 4787)
  AUTHORS   Li,M., Xie,Y.H., Kong,Y.Y., Wu,X., Zhu,L. and Wang,Y.
  TITLE     Cloning and characterization of a novel human hepatocyte
            transcription factor, hB1F, which binds and activates enhancer II
            of hepatitis B virus
  JOURNAL   J. Biol. Chem. 273 (44), 29022-29031 (1998)
   PUBMED   9786908
REFERENCE   8  (bases 1 to 4787)
  AUTHORS   Galarneau,L., Drouin,R. and Belanger,L.
  TITLE     Assignment of the fetoprotein transcription factor gene (FTF) to
            human chromosome band 1q32.11 by in situ hybridization
  JOURNAL   Cytogenet. Cell Genet. 82 (3-4), 269-270 (1998)
   PUBMED   9858833
REFERENCE   9  (bases 1 to 4787)
  AUTHORS   Wong,M., Ramayya,M.S., Chrousos,G.P., Driggers,P.H. and Parker,K.L.
  TITLE     Cloning and sequence analysis of the human gene encoding
            steroidogenic factor 1
  JOURNAL   J. Mol. Endocrinol. 17 (2), 139-147 (1996)
   PUBMED   8938589
REFERENCE   10 (bases 1 to 4787)
  AUTHORS   Bernier,D., Thomassin,H., Allard,D., Guertin,M., Hamel,D.,
            Blaquiere,M., Beauchemin,M., LaRue,H., Estable-Puig,M. and
            Belanger,L.
  TITLE     Functional analysis of developmentally regulated
            chromatin-hypersensitive domains carrying the alpha 1-fetoprotein
            gene promoter and the albumin/alpha 1-fetoprotein intergenic
            enhancer
  JOURNAL   Mol. Cell. Biol. 13 (3), 1619-1633 (1993)
   PUBMED   7680097
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK304365.1, AF146343.1, AC096633.2 and CA776772.1.
            
            Transcript Variant: This variant (3) has an alternate exon in place
            of the first two exons compared to variant 1. The resulting isoform
            (3) uses a downstream translation start site and has a shorter
            N-terminus compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK304365.1, AK316513.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084, ERS025098 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-688               AK304365.1         1-688
            689-1668            AF146343.1         819-1798
            1669-4564           AC096633.2         8383-11278          c
            4565-4787           CA776772.1         1-223               c
FEATURES             Location/Qualifiers
     source          1..4787
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..4787
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /note="nuclear receptor subfamily 5, group A, member 2"
                     /db_xref="GeneID:2494"
                     /db_xref="HGNC:7984"
                     /db_xref="MIM:604453"
     exon            1..141
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    18..20
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /note="upstream in-frame stop codon"
     exon            142..260
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /inference="alignment:Splign:1.39.8"
     CDS             156..1565
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /note="isoform 3 is encoded by transcript variant 3; CYP7A
                     promoter-binding factor; liver receptor homolog 1;
                     fetoprotein-alpha 1 (AFP) transcription factor; liver
                     receptor homolog-1; b1-binding factor, hepatocyte
                     transcription factor which activates enhancer II of
                     hepatitis B virus; liver nuclear receptor homolog-1
                     variant 2; nuclear receptor NR5A2; hepatocytic
                     transcription factor; alpha-1-fetoprotein transcription
                     factor"
                     /codon_start=1
                     /product="nuclear receptor subfamily 5 group A member 2
                     isoform 3"
                     /protein_id="NP_001263393.1"
                     /db_xref="GI:451172094"
                     /db_xref="GeneID:2494"
                     /db_xref="HGNC:7984"
                     /db_xref="MIM:604453"
                     /translation="
MVNYSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRYTCIENQNCQIDKTQRKRCPYCRFQKCLSVGMKLEAVRADRMRGGRNKFGPMYKRDRALKQQKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPLNHAALPPTDYDRSPFVTSPISMTMPPHGSLQGYQTYGHFPSRAIKSEYPDPYTSSPESIMGYSYMDSYQTSSPASIPHLILELLKCEPDEPQVQAKIMAYLQQEQANRSKHEKLSTFGLMCKMADQTLFSIVEWARSSIFFRELKVDDQMKLLQNCWSELLILDHIYRQVVHGKEGSIFLVTGQQVDYSIIASQAGATLNNLMSHAQELVAKLRSLQFDQREFVCLKFLVLFSLDVKNLENFQLVEGVQEQVNAALLDYTMCNYPQQTEKFGQLLLRLPEIRAISMQAEEYLYYKHLNGDVPYNNLLIEMLHAKRA
"
     misc_feature    195..473
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /note="The DNA-binding domain of Lrh-1 like nuclear
                     receptor family like is composed of two C4-type zinc
                     fingers; Region: NR_DBD_Lrh-1_like; cd07167"
                     /db_xref="CDD:143541"
     misc_feature    order(195..197,204..206,246..248,255..257,303..305,
                     321..323,351..353,360..362)
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /note="zinc binding site [ion binding]; other site"
                     /db_xref="CDD:143541"
     misc_feature    order(225..233,249..254,258..260,264..266,270..275,
                     282..284,342..347,363..365,402..410,417..437,453..455)
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143541"
     misc_feature    840..1562
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /note="The ligand binding domain of the liver receptor
                     homolog-1, a member of  nuclear receptor superfamily;
                     Region: NR_LBD_Lrh-1; cd07069"
                     /db_xref="CDD:132754"
     misc_feature    order(936..953,957..965,1194..1196,1497..1505,1509..1517,
                     1521..1526)
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /note="homodimer interface [polypeptide binding]; other
                     site"
                     /db_xref="CDD:132754"
     misc_feature    order(963..965,972..977,1083..1088,1095..1097,1107..1109,
                     1152..1154,1185..1187,1194..1202,1209..1211,1218..1223,
                     1476..1478,1485..1490,1497..1499)
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /note="ligand binding site [chemical binding]; other site"
                     /db_xref="CDD:132754"
     misc_feature    order(999..1001,1008..1010,1020..1022,1050..1052,
                     1059..1064,1071..1076,1527..1532,1539..1544)
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /note="corepressor recognition site; other site"
                     /db_xref="CDD:132754"
     variation       203
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201645640"
     variation       213
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:149536740"
     variation       233
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375484896"
     variation       239
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:144195644"
     exon            261..402
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /inference="alignment:Splign:1.39.8"
     variation       272
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34231860"
     exon            403..1049
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /inference="alignment:Splign:1.39.8"
     variation       413
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:151039307"
     variation       414
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373723203"
     variation       421
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:202168201"
     variation       499
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376606471"
     variation       583..584
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:367553497"
     variation       646
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:370765271"
     variation       647
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:140704739"
     variation       669
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201522628"
     variation       676
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200947591"
     variation       682
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:372532536"
     variation       689
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:2821368"
     variation       695
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:370987975"
     variation       731
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373837022"
     variation       739
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201214610"
     variation       743
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374594498"
     variation       755
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:191599647"
     variation       783
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201990828"
     variation       792
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:142863458"
     variation       823
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139624279"
     variation       921
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:200093294"
     variation       937
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:61755054"
     variation       948
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368332488"
     variation       950
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142287973"
     variation       964
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201550930"
     exon            1050..1169
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /inference="alignment:Splign:1.39.8"
     variation       1088
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:367908013"
     variation       1116
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201357988"
     variation       1169
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:372177139"
     exon            1170..1317
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /inference="alignment:Splign:1.39.8"
     variation       1199
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372651488"
     variation       1217
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377308692"
     variation       1231
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369542811"
     variation       1243
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146778765"
     variation       1286
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146607552"
     variation       1293
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199871331"
     variation       1298
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200672188"
     exon            1318..4779
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /inference="alignment:Splign:1.39.8"
     variation       1358
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:202153830"
     variation       1376
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150243341"
     variation       1403
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:149054125"
     variation       1408
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:183953069"
     variation       1442
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:143039367"
     variation       1454
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147419125"
     variation       1482
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:4255412"
     variation       1507
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373453960"
     variation       1508
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1060060"
     variation       1535
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139798381"
     variation       1537
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376108677"
     variation       1558
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:75501086"
     variation       1602
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377340850"
     variation       1607
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370677122"
     variation       1637
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:187662223"
     variation       1651
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:192579356"
     variation       1669
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1060061"
     variation       1793
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:182552712"
     variation       1834
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:116603498"
     variation       1929
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:374542267"
     variation       1942
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1060062"
     variation       1962
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377747524"
     variation       2071
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:2690034"
     variation       2237
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138094913"
     variation       2273
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373827638"
     variation       2316
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:2816912"
     variation       2437
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:187189958"
     variation       2526
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149528752"
     variation       2624
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:147213131"
     variation       2671
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:370541508"
     variation       2732..2733
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:35324783"
     variation       2733
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373492932"
     variation       2752
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:191651222"
     variation       2806
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:184465305"
     variation       2870
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:77733147"
     variation       2872
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:75978416"
     variation       2873
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:77780425"
     variation       2978
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:190165930"
     variation       2989
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:193121543"
     variation       3046
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:185551966"
     variation       3075
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:16846237"
     variation       3084
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:116175107"
     variation       3170
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:189212492"
     variation       3284
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:73073303"
     variation       3389
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:180686605"
     variation       3448
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373925354"
     variation       3457
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:185294707"
     variation       3467
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:188832676"
     variation       3482
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:76663619"
     variation       3503
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:181202557"
     variation       3596
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:186202087"
     variation       3663
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:117706497"
     variation       3709
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:12563630"
     variation       3732
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:191711871"
     variation       3733
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2246211"
     variation       3736
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2246210"
     variation       3760
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2246209"
     variation       3889
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:2690033"
     variation       3899
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:139907402"
     variation       3907
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145348903"
     variation       3910
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:183934944"
     variation       3972
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:114820141"
     variation       3989..3991
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace=""
                     /replace="aaa"
                     /db_xref="dbSNP:372388889"
     variation       4008
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372777927"
     variation       4042
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:187215029"
     variation       4063..4064
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:34116875"
     variation       4115
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147273476"
     variation       4120
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2690032"
     variation       4160
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148733300"
     variation       4202
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142412849"
     variation       4208
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:190786856"
     variation       4230..4231
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace=""
                     /replace="aa"
                     /db_xref="dbSNP:71691356"
     variation       4301
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:151293580"
     variation       4319
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:182339834"
     STS             4420..4609
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /standard_name="RH94232"
                     /db_xref="UniSTS:92305"
     variation       4470
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:41305050"
     variation       4522
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:3171000"
     STS             4607..4706
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /standard_name="G30215"
                     /db_xref="UniSTS:16803"
     variation       4630
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1056426"
     variation       4655..4656
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:34322240"
     variation       4721
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:35364522"
     variation       4722
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:76338423"
ORIGIN      
atagtttgtcatctttttagctgcgaagacgccttcgtgggtctgcgtccggagcaaggcggttacccgatcccggcagtgagccgcgccgcgcgtcgtggcggcctgatttctgtttaactttaatagggcgatctcgagtgtctcaatttaaaatggtgaattactcctatgatgaagatctggaagagctttgtcccgtgtgtggagataaagtgtctgggtaccattatgggctcctcacctgtgaaagctgcaagggattttttaagcgaacagtccaaaataataaaaggtacacatgtatagaaaaccagaactgccaaattgacaaaacacagagaaagcgttgtccttactgtcgttttcaaaaatgtctaagtgttggaatgaagctagaagctgtaagggccgaccgaatgcgtggaggaaggaataagtttgggccaatgtacaagagagacagggccctgaagcaacagaaaaaagccctcatccgagccaatggacttaagctagaagccatgtctcaggtgatccaagctatgccctctgacctgaccatttcctctgcaattcaaaacatccactctgcctccaaaggcctacctctgaaccatgctgccttgcctcctacagactatgacagaagtccctttgtaacatcccccattagcatgacaatgccccctcacggcagcctgcaaggttaccaaacatatggccactttcctagccgggccatcaagtctgagtacccagacccctataccagctcacccgagtccataatgggctattcatatatggatagttaccagacgagctctccagcaagcatcccacatctgatactggaacttttgaagtgtgagccagatgagcctcaagtccaggctaaaatcatggcctatttgcagcaagagcaggctaaccgaagcaagcacgaaaagctgagcacctttgggcttatgtgcaaaatggcagatcaaactctcttctccattgtcgagtgggccaggagtagtatcttcttcagagaacttaaggttgatgaccaaatgaagctgcttcagaactgctggagtgagctcttaatcctcgaccacatttaccgacaagtggtacatggaaaggaaggatccatcttcctggttactgggcaacaagtggactattccataatagcatcacaagccggagccaccctcaacaacctcatgagtcatgcacaggagttagtggcaaaacttcgttctctccagtttgatcaacgagagttcgtatgtctgaaattcttggtgctctttagtttagatgtcaaaaaccttgaaaacttccagctggtagaaggtgtccaggaacaagtcaatgccgccctgctggactacacaatgtgtaactacccgcagcagacagagaaatttggacagctacttcttcgactacccgaaatccgggccatcagtatgcaggctgaagaatacctctactacaagcacctgaacggggatgtgccctataataaccttctcattgaaatgttgcatgccaaaagagcataagttacaacccctaggagctctgctttcaaaacaaaaagagattgggggagtggggagggggaagaagaacaggaagaaaaaaagtactctgaactgctccaagtaacgctaattaaaaacttgctttaaagatattgaatttaaaaaggcataataatcaaatacttaatagcaaataaatgatgtatcagggtatttgtattgcaaactgtgaatcaaaggcttcacagccccagaggattccatataaaagacattgtaatggagtggattgaactcacagatggataccaacacggtcagaagaaaaacggacagaacggttcttgtatatttaaactgatctccactatgaagaaatttaggaactaatcttattaattaggcttatacagcgggggatttgagcttacaggattcctccatggtaaagctgaactgaaacaattctcaagaatgcatcagctgtacctacaatagcccctccctcttcctttgaaggccccagcacctctgccctgtggtcaccgaatctgtactaaggacctgtgttcagccacacccagtggtagctccaccaaatcatgaacagcctaattttgagtgtctgtgtcttagacctgcaaacagctaataggaaattctattaatatgttagcttgccattttaaatatgttctgagggttgttttgtctcgtgttcatgatgttaagaaaatgcaggcagtatccctcatcttatgtaagtgttaattaatattaagggaaatgactacaaactttcaaagcaaatgctccatagctaaagcaacttagaccttatttctgctactgttgctgaaatgtggctttggcattgttggatttcataaaaaatttctggcaggaagtcttgttagtatacatcagtctttttcatcatccaagtttgtagttcatttaaaaatacaacattaaacacattttgctaggatgtcaaatagtcacagttctaagtagttggaaacaaaattgacgcatgttaatctatgcaaagagaaaggaaaggatgaggtgatgtattgactcaaggttcattcttgctgcaattgaacatcctcaagagttgggatggaaatggtgatttttacatgtgtcctggaaagatattaaagtaattcaaatcttccccaaaggggaaaggaagagagtgatactgacctttttaagtcatagaccaaagtctgctgtagaacaaatatgggaggacaaagaatcgcaaattcttcaaatgactattatcagtattattaacatgcgatgccacaggtatgaaagtcttgccttatttcacaattttaaaaggtagctgtgcagatgtggatcaacatttgtttaaaataaagtattaatactttaaagtcaaataagatatagtgtttacattctttaggtcctgaggggcagggggatctgtgatataacaaaatagcaaaagcggtaatttccttaatgttatttttctgattggtaattatttttaacagtacttaattattctatgtcgtgagacactaaaatcaaaaacgggaatctcatttagactttaatttttttgagattatcggcggcacaatcactttgtagaaactgtaaaaaataaaagtatctcctagtcccttaattttttcataaatatttctggcttttgagtagtgtatttatattgtatatcatactttcaactgtagacaattatgatgctaatttattgtttcttggtttcacctttgtataagatatagccaagactgaagaaaccaaatatatgtgtttactgtagcatgtcttcaaattagtggaacttagttcagggacatagaagagtcttaatgaattaaaatcattcacttgattaaatgtctgtaaatcttcatcattcctactgtagtttatttaatatctattgtaaattatgtgacttgtagcttcctctggttttcaagtaaactcaacaaggtggagtcttacctggttttcctttccaagcattgtaaattgtataccaaagatattagttattacttctgtgtgtacaaagaggattattttattatgtttattaatcacctctaatactcatccacatgaagggtacacattaggtaagctgggcgttgactcatgcgcagtctcagtcacccgtgttatcttcgtggctcaaaggacaatgcaaaatcgccgatcagagctcatacccaaagcattacagagaacagcagcatcattgccctccccagctgaaaaacaagttggctagaagatacatggagaggaatggtgtggtcaacagttaatgaaacggttctatcatgcatgtgtaatgtggatggagacaattataagatttgactataactatttggagggtctttaacattgccaaaaaaacaaatatgttgatttttattttattttattttttattttaagaggcgggatcttgatctcacatgttgcccaggctggccttgaactcctgggctcaagcattcctcctgcctcagcctcccccatagctgggactaggggtgcatgccagcatacctggctacgttgactcttaaaatctatgttctcttattttaaagatacagtgctccccactgaaaattaaacctaaaaaatgtcacatattggtatgttgttaacctggtagattaaatcatgagaatgattagaaagacgggcaacacagcgggttacatccacactgctgatcacaccaacgacaggagctgataagcaagaaagcgtcacagccagcgtctgttcacccaaggttgacaagtgaagtttctctaatgttgattgttagccgatttgtaacctggcatttacttagcaactgccttatcaattacaggatttgccggtaaaagcagactcaaatataaaggtttttggcttaacttggtttattatagttgctctatgtttgtaaacagacaatctctaatgtctgattatttgtatcacagatctgcagctgccttggacttgaatccatgcaatgtttagagtgtgaagtcagttacttgttgatgttttcttactgtatcaatgaaatacatattgtcatgtcagttcttgccaggaacttctcaacaaaatggaattttttttttcagtatttcaataaatattgatatgcccagcctgataatttttaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:2494 -> Molecular function: GO:0003677 [DNA binding] evidence: IDA
            GeneID:2494 -> Molecular function: GO:0003690 [double-stranded DNA binding] evidence: IEA
            GeneID:2494 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IDA
            GeneID:2494 -> Molecular function: GO:0003705 [RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity] evidence: TAS
            GeneID:2494 -> Molecular function: GO:0003707 [steroid hormone receptor activity] evidence: IEA
            GeneID:2494 -> Molecular function: GO:0004879 [ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity] evidence: TAS
            GeneID:2494 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:2494 -> Molecular function: GO:0005543 [phospholipid binding] evidence: IDA
            GeneID:2494 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA
            GeneID:2494 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IDA
            GeneID:2494 -> Molecular function: GO:0044212 [transcription regulatory region DNA binding] evidence: IDA
            GeneID:2494 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: IDA
            GeneID:2494 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: TAS
            GeneID:2494 -> Biological process: GO:0006367 [transcription initiation from RNA polymerase II promoter] evidence: TAS
            GeneID:2494 -> Biological process: GO:0008206 [bile acid metabolic process] evidence: IEA
            GeneID:2494 -> Biological process: GO:0009790 [embryo development] evidence: TAS
            GeneID:2494 -> Biological process: GO:0010467 [gene expression] evidence: TAS
            GeneID:2494 -> Biological process: GO:0031018 [endocrine pancreas development] evidence: TAS
            GeneID:2494 -> Biological process: GO:0042127 [regulation of cell proliferation] evidence: IEA
            GeneID:2494 -> Biological process: GO:0042592 [homeostatic process] evidence: NAS
            GeneID:2494 -> Biological process: GO:0042632 [cholesterol homeostasis] evidence: IEA
            GeneID:2494 -> Biological process: GO:0045070 [positive regulation of viral genome replication] evidence: IDA
            GeneID:2494 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: IDA
            GeneID:2494 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: TAS
            GeneID:2494 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA
            GeneID:2494 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
            GeneID:2494 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
            GeneID:2494 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA

by @meso_cacase at DBCLS
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