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2024-04-19 17:54:30, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_205860 5094 bp mRNA linear PRI 17-JUN-2013
DEFINITION Homo sapiens nuclear receptor subfamily 5, group A, member 2
(NR5A2), transcript variant 1, mRNA.
ACCESSION NM_205860
VERSION NM_205860.2 GI:451172091
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 5094)
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 5094)
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 5094)
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 5094)
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 5094)
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 5094)
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 5094)
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 5094)
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 5094)
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 5094)
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
U93553.1, AF146343.1, AF124247.1, AC096633.2 and CA776772.1.
On Feb 14, 2013 this sequence version replaced gi:45545404.
Transcript Variant: This variant (1) represents the longest
transcript and encodes the longest 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 :: U93553.1, AB019246.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025098 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-63 U93553.1 1-63
64-246 AF146343.1 25-207
247-1872 AF124247.1 1-1626
1873-1975 AF146343.1 1696-1798
1976-4871 AC096633.2 8383-11278 c
4872-5094 CA776772.1 1-223 c
FEATURES Location/Qualifiers
source 1..5094
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q32.1"
gene 1..5094
/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="HPRD:06830"
/db_xref="MIM:604453"
exon 1..310
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/inference="alignment:Splign:1.39.8"
variation 16
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/replace="a"
/replace="g"
/db_xref="dbSNP:113141295"
variation 21
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/replace="c"
/replace="t"
/db_xref="dbSNP:77496685"
variation 93
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/replace=""
/replace="t"
/db_xref="dbSNP:59429274"
variation 167
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141983892"
variation 202
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374712916"
misc_feature 214..216
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/note="upstream in-frame stop codon"
variation 225
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/replace="a"
/replace="c"
/db_xref="dbSNP:11582055"
variation 241
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/replace="c"
/replace="g"
/db_xref="dbSNP:369076701"
CDS 247..1872
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/note="isoform 1 is encoded by transcript variant 1; 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 1"
/protein_id="NP_995582.1"
/db_xref="GI:45545405"
/db_xref="CCDS:CCDS1401.1"
/db_xref="GeneID:2494"
/db_xref="HGNC:7984"
/db_xref="HPRD:06830"
/db_xref="MIM:604453"
/translation="
MSSNSDTGDLQESLKHGLTPIGAGLPDRHGSPIPARGRLVMLPKVETEALGLARSHGEQGQMPENMQVSQFKMVNYSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRYTCIENQNCQIDKTQRKRCPYCRFQKCLSVGMKLEAVRADRMRGGRNKFGPMYKRDRALKQQKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPLNHAALPPTDYDRSPFVTSPISMTMPPHGSLQGYQTYGHFPSRAIKSEYPDPYTSSPESIMGYSYMDSYQTSSPASIPHLILELLKCEPDEPQVQAKIMAYLQQEQANRSKHEKLSTFGLMCKMADQTLFSIVEWARSSIFFRELKVDDQMKLLQNCWSELLILDHIYRQVVHGKEGSIFLVTGQQVDYSIIASQAGATLNNLMSHAQELVAKLRSLQFDQREFVCLKFLVLFSLDVKNLENFQLVEGVQEQVNAALLDYTMCNYPQQTEKFGQLLLRLPEIRAISMQAEEYLYYKHLNGDVPYNNLLIEMLHAKRA
"
misc_feature 502..780
/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(502..504,511..513,553..555,562..564,610..612,
628..630,658..660,667..669)
/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(532..540,556..561,565..567,571..573,577..582,
589..591,649..654,670..672,709..717,724..744,760..762)
/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 709..798
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O00482.2);
Region: FTZ-F1 box"
misc_feature 1147..1869
/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(1243..1260,1264..1272,1501..1503,1804..1812,
1816..1824,1828..1833)
/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(1270..1272,1279..1284,1390..1395,1402..1404,
1414..1416,1459..1461,1492..1494,1501..1509,1516..1518,
1525..1530,1783..1785,1792..1797,1804..1806)
/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 1270..1416
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O00482.2);
Region: Ligand-binding"
misc_feature order(1306..1308,1315..1317,1327..1329,1357..1359,
1366..1371,1378..1383,1834..1839,1846..1851)
/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"
misc_feature 1501..1518
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O00482.2);
Region: Lipid binding"
variation 274
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/replace="a"
/replace="t"
/db_xref="dbSNP:61755053"
variation 294
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/replace="c"
/replace="t"
/db_xref="dbSNP:143373151"
variation 295
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377057930"
variation 304
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/replace="c"
/replace="t"
/db_xref="dbSNP:142187332"
exon 311..448
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/inference="alignment:Splign:1.39.8"
variation 327
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373989335"
variation 329
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377663705"
variation 335
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370524609"
variation 348
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145778729"
variation 399
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150722139"
variation 406
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/replace="c"
/replace="t"
/db_xref="dbSNP:117334803"
variation 424
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375366164"
exon 449..567
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/inference="alignment:Splign:1.39.8"
variation 510
/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 520
/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 540
/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 546
/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 568..709
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/inference="alignment:Splign:1.39.8"
variation 579
/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 710..1356
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/inference="alignment:Splign:1.39.8"
variation 720
/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 721
/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 728
/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 806
/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 890..891
/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 953
/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 954
/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 976
/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 983
/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 989
/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 996
/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 1002
/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 1038
/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 1046
/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 1050
/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 1062
/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 1090
/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 1099
/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 1130
/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 1228
/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 1244
/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 1255
/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 1257
/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 1271
/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 1357..1476
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/inference="alignment:Splign:1.39.8"
variation 1395
/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 1423
/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 1476
/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 1477..1624
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/inference="alignment:Splign:1.39.8"
variation 1506
/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 1524
/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 1538
/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 1550
/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 1593
/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 1600
/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 1605
/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 1625..5086
/gene="NR5A2"
/gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
hB1F-2; LRH-1; LRH1"
/inference="alignment:Splign:1.39.8"
variation 1665
/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 1683
/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 1710
/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 1715
/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 1749
/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 1761
/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 1789
/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 1814
/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 1815
/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 1842
/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 1844
/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 1865
/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 1909
/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 1914
/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 1944
/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 1958
/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 1976
/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 2100
/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 2141
/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 2236
/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 2249
/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 2269
/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 2378
/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 2544
/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 2580
/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 2623
/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 2744
/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 2833
/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 2931
/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 2978
/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 3039..3040
/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 3040
/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 3059
/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 3113
/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 3177
/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 3179
/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 3180
/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 3285
/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 3296
/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 3353
/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 3382
/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 3391
/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 3477
/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 3591
/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 3696
/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 3755
/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 3764
/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 3774
/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 3789
/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 3810
/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 3903
/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 3970
/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 4016
/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 4039
/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 4040
/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 4043
/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 4067
/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 4196
/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 4206
/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 4214
/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 4217
/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 4279
/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 4296..4298
/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 4315
/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 4349
/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 4370..4371
/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 4422
/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 4427
/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 4467
/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 4509
/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 4515
/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 4537..4538
/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 4608
/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 4626
/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 4727..4916
/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 4777
/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 4829
/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 4914..5013
/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 4937
/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 4962..4963
/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 5028
/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 5029
/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
gaaactggatacatggtttacagcaggtcactaatgttggaaaaagtacagagtccagggaaagacttgcttgtaactttatgaattctggatttttttttttcctttgctttttcttaactttcactaagggttactgtagtctgatgtgtccttcccaaggccacgaaatttgacaagctgcacttttcttttgctcaatgatttctgctttaagccaaagaactgcctataatttcactaagaatgtcttctaattcagatactggggatttacaagagtctttaaagcacggacttacacctattggtgctgggcttccggaccgacacggatcccccatccccgcccgcggtcgccttgtcatgctgcccaaagtggagacggaagccctgggactggctcgatcgcatggggaacagggccagatgccggaaaacatgcaagtgtctcaatttaaaatggtgaattactcctatgatgaagatctggaagagctttgtcccgtgtgtggagataaagtgtctgggtaccattatgggctcctcacctgtgaaagctgcaagggattttttaagcgaacagtccaaaataataaaaggtacacatgtatagaaaaccagaactgccaaattgacaaaacacagagaaagcgttgtccttactgtcgttttcaaaaatgtctaagtgttggaatgaagctagaagctgtaagggccgaccgaatgcgtggaggaaggaataagtttgggccaatgtacaagagagacagggccctgaagcaacagaaaaaagccctcatccgagccaatggacttaagctagaagccatgtctcaggtgatccaagctatgccctctgacctgaccatttcctctgcaattcaaaacatccactctgcctccaaaggcctacctctgaaccatgctgccttgcctcctacagactatgacagaagtccctttgtaacatcccccattagcatgacaatgccccctcacggcagcctgcaaggttaccaaacatatggccactttcctagccgggccatcaagtctgagtacccagacccctataccagctcacccgagtccataatgggctattcatatatggatagttaccagacgagctctccagcaagcatcccacatctgatactggaacttttgaagtgtgagccagatgagcctcaagtccaggctaaaatcatggcctatttgcagcaagagcaggctaaccgaagcaagcacgaaaagctgagcacctttgggcttatgtgcaaaatggcagatcaaactctcttctccattgtcgagtgggccaggagtagtatcttcttcagagaacttaaggttgatgaccaaatgaagctgcttcagaactgctggagtgagctcttaatcctcgaccacatttaccgacaagtggtacatggaaaggaaggatccatcttcctggttactgggcaacaagtggactattccataatagcatcacaagccggagccaccctcaacaacctcatgagtcatgcacaggagttagtggcaaaacttcgttctctccagtttgatcaacgagagttcgtatgtctgaaattcttggtgctctttagtttagatgtcaaaaaccttgaaaacttccagctggtagaaggtgtccaggaacaagtcaatgccgccctgctggactacacaatgtgtaactacccgcagcagacagagaaatttggacagctacttcttcgactacccgaaatccgggccatcagtatgcaggctgaagaatacctctactacaagcacctgaacggggatgtgccctataataaccttctcattgaaatgttgcatgccaaaagagcataagttacaacccctaggagctctgctttcaaaacaaaaagagattgggggagtggggagggggaagaagaacaggaagaaaaaaagtactctgaactgctccaagtaacgctaattaaaaacttgctttaaagatattgaatttaaaaaggcataataatcaaatacttaatagcaaataaatgatgtatcagggtatttgtattgcaaactgtgaatcaaaggcttcacagccccagaggattccatataaaagacattgtaatggagtggattgaactcacagatggataccaacacggtcagaagaaaaacggacagaacggttcttgtatatttaaactgatctccactatgaagaaatttaggaactaatcttattaattaggcttatacagcgggggatttgagcttacaggattcctccatggtaaagctgaactgaaacaattctcaagaatgcatcagctgtacctacaatagcccctccctcttcctttgaaggccccagcacctctgccctgtggtcaccgaatctgtactaaggacctgtgttcagccacacccagtggtagctccaccaaatcatgaacagcctaattttgagtgtctgtgtcttagacctgcaaacagctaataggaaattctattaatatgttagcttgccattttaaatatgttctgagggttgttttgtctcgtgttcatgatgttaagaaaatgcaggcagtatccctcatcttatgtaagtgttaattaatattaagggaaatgactacaaactttcaaagcaaatgctccatagctaaagcaacttagaccttatttctgctactgttgctgaaatgtggctttggcattgttggatttcataaaaaatttctggcaggaagtcttgttagtatacatcagtctttttcatcatccaagtttgtagttcatttaaaaatacaacattaaacacattttgctaggatgtcaaatagtcacagttctaagtagttggaaacaaaattgacgcatgttaatctatgcaaagagaaaggaaaggatgaggtgatgtattgactcaaggttcattcttgctgcaattgaacatcctcaagagttgggatggaaatggtgatttttacatgtgtcctggaaagatattaaagtaattcaaatcttccccaaaggggaaaggaagagagtgatactgacctttttaagtcatagaccaaagtctgctgtagaacaaatatgggaggacaaagaatcgcaaattcttcaaatgactattatcagtattattaacatgcgatgccacaggtatgaaagtcttgccttatttcacaattttaaaaggtagctgtgcagatgtggatcaacatttgtttaaaataaagtattaatactttaaagtcaaataagatatagtgtttacattctttaggtcctgaggggcagggggatctgtgatataacaaaatagcaaaagcggtaatttccttaatgttatttttctgattggtaattatttttaacagtacttaattattctatgtcgtgagacactaaaatcaaaaacgggaatctcatttagactttaatttttttgagattatcggcggcacaatcactttgtagaaactgtaaaaaataaaagtatctcctagtcccttaattttttcataaatatttctggcttttgagtagtgtatttatattgtatatcatactttcaactgtagacaattatgatgctaatttattgtttcttggtttcacctttgtataagatatagccaagactgaagaaaccaaatatatgtgtttactgtagcatgtcttcaaattagtggaacttagttcagggacatagaagagtcttaatgaattaaaatcattcacttgattaaatgtctgtaaatcttcatcattcctactgtagtttatttaatatctattgtaaattatgtgacttgtagcttcctctggttttcaagtaaactcaacaaggtggagtcttacctggttttcctttccaagcattgtaaattgtataccaaagatattagttattacttctgtgtgtacaaagaggattattttattatgtttattaatcacctctaatactcatccacatgaagggtacacattaggtaagctgggcgttgactcatgcgcagtctcagtcacccgtgttatcttcgtggctcaaaggacaatgcaaaatcgccgatcagagctcatacccaaagcattacagagaacagcagcatcattgccctccccagctgaaaaacaagttggctagaagatacatggagaggaatggtgtggtcaacagttaatgaaacggttctatcatgcatgtgtaatgtggatggagacaattataagatttgactataactatttggagggtctttaacattgccaaaaaaacaaatatgttgatttttattttattttattttttattttaagaggcgggatcttgatctcacatgttgcccaggctggccttgaactcctgggctcaagcattcctcctgcctcagcctcccccatagctgggactaggggtgcatgccagcatacctggctacgttgactcttaaaatctatgttctcttattttaaagatacagtgctccccactgaaaattaaacctaaaaaatgtcacatattggtatgttgttaacctggtagattaaatcatgagaatgattagaaagacgggcaacacagcgggttacatccacactgctgatcacaccaacgacaggagctgataagcaagaaagcgtcacagccagcgtctgttcacccaaggttgacaagtgaagtttctctaatgttgattgttagccgatttgtaacctggcatttacttagcaactgccttatcaattacaggatttgccggtaaaagcagactcaaatataaaggtttttggcttaacttggtttattatagttgctctatgtttgtaaacagacaatctctaatgtctgattatttgtatcacagatctgcagctgccttggacttgaatccatgcaatgtttagagtgtgaagtcagttacttgttgatgttttcttactgtatcaatgaaatacatattgtcatgtcagttcttgccaggaacttctcaacaaaatggaattttttttttcagtatttcaataaatattgatatgcccagcctgataatttttaaaaaaaaaaaa
//
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
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