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2024-04-20 18:56:39, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_000545 3241 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens HNF1 homeobox A (HNF1A), mRNA. ACCESSION NM_000545 VERSION NM_000545.5 GI:256542296 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 3241) AUTHORS Thanabalasingham,G., Huffman,J.E., Kattla,J.J., Novokmet,M., Rudan,I., Gloyn,A.L., Hayward,C., Adamczyk,B., Reynolds,R.M., Muzinic,A., Hassanali,N., Pucic,M., Bennett,A.J., Essafi,A., Polasek,O., Mughal,S.A., Redzic,I., Primorac,D., Zgaga,L., Kolcic,I., Hansen,T., Gasperikova,D., Tjora,E., Strachan,M.W., Nielsen,T., Stanik,J., Klimes,I., Pedersen,O.B., Njolstad,P.R., Wild,S.H., Gyllensten,U., Gornik,O., Wilson,J.F., Hastie,N.D., Campbell,H., McCarthy,M.I., Rudd,P.M., Owen,K.R., Lauc,G. and Wright,A.F. TITLE Mutations in HNF1A result in marked alterations of plasma glycan profile JOURNAL Diabetes 62 (4), 1329-1337 (2013) PUBMED 23274891 REMARK GeneRIF: Glycan profiles are altered substantially in HNF1A-MODY, and the DG9-glycan index has potential clinical value as a diagnostic biomarker of HNF1A dysfunction. REFERENCE 2 (bases 1 to 3241) AUTHORS Kottgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, Pistis G, Ruggiero D, O'Seaghdha CM, Haller T, Yang Q, Tanaka T, Johnson AD, Kutalik Z, Smith AV, Shi J, Struchalin M, Middelberg RP, Brown MJ, Gaffo AL, Pirastu N, Li G, Hayward C, Zemunik T, Huffman J, Yengo L, Zhao JH, Demirkan A, Feitosa MF, Liu X, Malerba G, Lopez LM, van der Harst P, Li X, Kleber ME, Hicks AA, Nolte IM, Johansson A, Murgia F, Wild SH, Bakker SJ, Peden JF, Dehghan A, Steri M, Tenesa A, Lagou V, Salo P, Mangino M, Rose LM, Lehtimaki T, Woodward OM, Okada Y, Tin A, Muller C, Oldmeadow C, Putku M, Czamara D, Kraft P, Frogheri L, Thun GA, Grotevendt A, Gislason GK, Harris TB, Launer LJ, McArdle P, Shuldiner AR, Boerwinkle E, Coresh J, Schmidt H, Schallert M, Martin NG, Montgomery GW, Kubo M, Nakamura Y, Tanaka T, Munroe PB, Samani NJ, Jacobs DR Jr, Liu K, D'Adamo P, Ulivi S, Rotter JI, Psaty BM, Vollenweider P, Waeber G, Campbell S, Devuyst O, Navarro P, Kolcic I, Hastie N, Balkau B, Froguel P, Esko T, Salumets A, Khaw KT, Langenberg C, Wareham NJ, Isaacs A, Kraja A, Zhang Q, Wild PS, Scott RJ, Holliday EG, Org E, Viigimaa M, Bandinelli S, Metter JE, Lupo A, Trabetti E, Sorice R, Doring A, Lattka E, Strauch K, Theis F, Waldenberger M, Wichmann HE, Davies G, Gow AJ, Bruinenberg M, Stolk RP, Kooner JS, Zhang W, Winkelmann BR, Boehm BO, Lucae S, Penninx BW, Smit JH, Curhan G, Mudgal P, Plenge RM, Portas L, Persico I, Kirin M, Wilson JF, Mateo Leach I, van Gilst WH, Goel A, Ongen H, Hofman A, Rivadeneira F, Uitterlinden AG, Imboden M, von Eckardstein A, Cucca F, Nagaraja R, Piras MG, Nauck M, Schurmann C, Budde K, Ernst F, Farrington SM, Theodoratou E, Prokopenko I, Stumvoll M, Jula A, Perola M, Salomaa V, Shin SY, Spector TD, Sala C, Ridker PM, Kahonen M, Viikari J, Hengstenberg C, Nelson CP, Meschia JF, Nalls MA, Sharma P, Singleton AB, Kamatani N, Zeller T, Burnier M, Attia J, Laan M, Klopp N, Hillege HL, Kloiber S, Choi H, Pirastu M, Tore S, Probst-Hensch NM, Volzke H, Gudnason V, Parsa A, Schmidt R, Whitfield JB, Fornage M, Gasparini P, Siscovick DS, Polasek O, Campbell H, Rudan I, Bouatia-Naji N, Metspalu A, Loos RJ, van Duijn CM, Borecki IB, Ferrucci L, Gambaro G, Deary IJ, Wolffenbuttel BH, Chambers JC, Marz W, Pramstaller PP, Snieder H, Gyllensten U, Wright AF, Navis G, Watkins H, Witteman JC, Sanna S, Schipf S, Dunlop MG, Tonjes A, Ripatti S, Soranzo N, Toniolo D, Chasman DI, Raitakari O, Kao WH, Ciullo M, Fox CS, Caulfield M, Bochud M and Gieger C. CONSRTM LifeLines Cohort Study; CARDIoGRAM Consortium; DIAGRAM Consortium; ICBP Consortium; MAGIC Consortium TITLE Genome-wide association analyses identify 18 new loci associated with serum urate concentrations JOURNAL Nat. Genet. 45 (2), 145-154 (2013) PUBMED 23263486 REFERENCE 3 (bases 1 to 3241) AUTHORS Kim DK, Cho MH, Hersh CP, Lomas DA, Miller BE, Kong X, Bakke P, Gulsvik A, Agusti A, Wouters E, Celli B, Coxson H, Vestbo J, MacNee W, Yates JC, Rennard S, Litonjua A, Qiu W, Beaty TH, Crapo JD, Riley JH, Tal-Singer R and Silverman EK. CONSRTM ECLIPSE, ICGN, and COPDGene Investigators TITLE Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease JOURNAL Am. J. Respir. Crit. Care Med. 186 (12), 1238-1247 (2012) PUBMED 23144326 REFERENCE 4 (bases 1 to 3241) AUTHORS Matsui,C., Shoji,I., Kaneda,S., Sianipar,I.R., Deng,L. and Hotta,H. TITLE Hepatitis C virus infection suppresses GLUT2 gene expression via downregulation of hepatocyte nuclear factor 1alpha JOURNAL J. Virol. 86 (23), 12903-12911 (2012) PUBMED 22993150 REMARK GeneRIF: Hepatitis C virus (HCV)-induced downregulation of HNF-1alpha expression may play a crucial role in glucose metabolic disorders caused by HCV. REFERENCE 5 (bases 1 to 3241) AUTHORS Dlouha,D., Pitha,J., Adamkova,V., Lanska,V. and Hubacek,J.A. TITLE Variants within HNF1alpha and ANGPTL4 genes and acute coronary syndrome in Czech population. The GENDEMIP study JOURNAL Neuro Endocrinol. Lett. 33 (SUPPL 2), 13-16 (2012) PUBMED 23183503 REMARK GeneRIF: No association was observed between polymorphisms within the HNF1-alpha and ANGPTL4 genes and the risk of acute coronary syndrome in the Czech population. REFERENCE 6 (bases 1 to 3241) AUTHORS Szpirer,C., Riviere,M., Cortese,R., Nakamura,T., Islam,M.Q., Levan,G. and Szpirer,J. TITLE Chromosomal localization in man and rat of the genes encoding the liver-enriched transcription factors C/EBP, DBP, and HNF1/LFB-1 (CEBP, DBP, and transcription factor 1, TCF1, respectively) and of the hepatocyte growth factor/scatter factor gene (HGF) JOURNAL Genomics 13 (2), 293-300 (1992) PUBMED 1535333 REFERENCE 7 (bases 1 to 3241) AUTHORS Bach,I., Mattei,M.G., Cereghini,S. and Yaniv,M. TITLE Two members of an HNF1 homeoprotein family are expressed in human liver JOURNAL Nucleic Acids Res. 19 (13), 3553-3559 (1991) PUBMED 1677179 REFERENCE 8 (bases 1 to 3241) AUTHORS Mendel,D.B., Hansen,L.P., Graves,M.K., Conley,P.B. and Crabtree,G.R. TITLE HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro JOURNAL Genes Dev. 5 (6), 1042-1056 (1991) PUBMED 2044952 REFERENCE 9 (bases 1 to 3241) AUTHORS Kuo,C.J., Conley,P.B., Hsieh,C.L., Francke,U. and Crabtree,G.R. TITLE Molecular cloning, functional expression, and chromosomal localization of mouse hepatocyte nuclear factor 1 JOURNAL Proc. Natl. Acad. Sci. U.S.A. 87 (24), 9838-9842 (1990) PUBMED 2263635 REFERENCE 10 (bases 1 to 3241) AUTHORS Bach,I., Galcheva-Gargova,Z., Mattei,M.G., Simon-Chazottes,D., Guenet,J.L., Cereghini,S. and Yaniv,M. TITLE Cloning of human hepatic nuclear factor 1 (HNF1) and chromosomal localization of its gene in man and mouse JOURNAL Genomics 8 (1), 155-164 (1990) PUBMED 1707031 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from M57732.1, BC104908.1, AC079602.15 and BE348240.1. This sequence is a reference standard in the RefSeqGene project. On Aug 25, 2009 this sequence version replaced gi:134304843. Summary: The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. [provided by RefSeq, Mar 2009]. 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 :: M57732.1, BC104908.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025097 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-987 M57732.1 1-987 988-1567 BC104908.1 985-1564 1568-2521 M57732.1 1568-2521 2522-3187 AC079602.15 136485-137150 c 3188-3241 BE348240.1 1-54 c FEATURES Location/Qualifiers source 1..3241 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="12" /map="12q24.2" gene 1..3241 /gene="HNF1A" /gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1; TCF1" /note="HNF1 homeobox A" /db_xref="GeneID:6927" /db_xref="HGNC:11621" /db_xref="MIM:142410" exon 1..349 /gene="HNF1A" /gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1; TCF1" /inference="alignment:Splign:1.39.8" variation 1 /gene="HNF1A" /gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1; TCF1" /replace="c" /replace="g" /db_xref="dbSNP:199945468" variation 19 /gene="HNF1A" /gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1; TCF1" /replace="a" /replace="g" /db_xref="dbSNP:370979090" CDS 24..1919 /gene="HNF1A" /gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1; TCF1" /note="hepatic nuclear factor 1; albumin proximal factor; transcription factor 1, hepatic; interferon production regulator factor; HNF-1-alpha; liver-specific transcription factor LF-B1" /codon_start=1 /product="hepatocyte nuclear factor 1-alpha" /protein_id="NP_000536.5" /db_xref="GI:256542297" /db_xref="CCDS:CCDS9209.1" /db_xref="GeneID:6927" /db_xref="HGNC:11621" /db_xref="MIM:142410" /translation="
MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAELPNGLGETRGSEDETDDDGEDFTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVKSYLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREVAQQFTHAGQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAECIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALPAHSSPGLPPPALSPSKVHGVRYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSHSLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQPQNLIMASLPGVMTIGPGEPASLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPVQSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALASLTPTKQVFTSDTEASSESGLHTPASQATTLHVPSQDPAGIQHLQPAHRLSASPTVSSSSLVLYQSSDSSNGQSHLLPSNHSVIETFISTQMASSSQ
"
misc_feature 24..116
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P20823.2);
Region: Dimerization"
misc_feature 102..551
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/note="Hepatocyte nuclear factor 1 (HNF-1), N terminus;
Region: HNF-1_N; pfam04814"
/db_xref="CDD:147128"
misc_feature 411..419
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P20823.2);
Region: Interaction with DNA"
misc_feature 450..470
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P20823.2);
Region: Interaction with DNA"
misc_feature 486..497
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P20823.2);
Region: Interaction with DNA"
misc_feature 612..638
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P20823.2);
Region: Nuclear localization signal (Probable)"
misc_feature 621..848
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/note="Homeodomain; DNA binding domains involved in the
transcriptional regulation of key eukaryotic developmental
processes; may bind to DNA as monomers or as homo- and/or
heterodimers, in a sequence-specific manner; Region:
homeodomain; cd00086"
/db_xref="CDD:28970"
misc_feature order(621..635,639..641,690..692,708..710,810..812,
816..821,828..833,837..845)
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:28970"
misc_feature order(627..629,636..638,819..821,828..833,840..842)
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:28970"
misc_feature 630..641
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P20823.2);
Region: Interaction with DNA"
misc_feature 810..818
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P20823.2);
Region: Interaction with DNA"
misc_feature 831..842
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P20823.2);
Region: Interaction with DNA"
misc_feature 969..1646
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/note="Hepatocyte nuclear factor 1 (HNF-1), beta isoform C
terminus; Region: HNF-1B_C; pfam04812"
/db_xref="CDD:191099"
misc_feature 1647..1913
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/note="Hepatocyte nuclear factor 1 (HNF-1), alpha isoform
C terminus; Region: HNF-1A_C; pfam04813"
/db_xref="CDD:147127"
variation 24
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:193922592"
variation 37
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:188016232"
variation 74
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1169289"
variation complement(102)
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1169288"
variation 115
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:137853247"
variation 123
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:139742280"
variation 125
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145314420"
variation 153
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace=""
/replace="c"
/db_xref="dbSNP:193922578"
variation 162
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="g"
/db_xref="dbSNP:373180062"
variation 173
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:193922583"
variation 178
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="g"
/db_xref="dbSNP:142318174"
variation 179
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:150195625"
variation 192
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace=""
/replace="c"
/db_xref="dbSNP:193922588"
variation 208
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377129682"
variation 226
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:188085301"
variation 233
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146686581"
variation 239
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:148961412"
variation 248
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:202180554"
variation 259
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="t"
/db_xref="dbSNP:143753579"
variation 261
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="g"
/replace="t"
/db_xref="dbSNP:76845985"
variation 275
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:78772552"
variation 280
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="t"
/db_xref="dbSNP:200442958"
variation 287
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201223431"
variation 299
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:34056805"
variation 304
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:193922593"
variation 313
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374794304"
variation 316
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1800574"
variation 330
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:367839639"
variation 336..337
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace=""
/replace="g"
/db_xref="dbSNP:193922594"
exon 350..549
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/inference="alignment:Splign:1.39.8"
variation 358
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:137853243"
variation 359
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371365341"
variation 364
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:139016696"
variation 388
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:137853237"
variation 400..401
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace=""
/replace="gca"
/db_xref="dbSNP:193922596"
variation 414
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:137853244"
variation 431
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="g"
/db_xref="dbSNP:376387471"
variation 464
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="c"
/db_xref="dbSNP:193922597"
variation 487
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:185620161"
variation 490
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:150513055"
variation 503
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368536974"
variation 504
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201095611"
variation 515
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="g"
/db_xref="dbSNP:199623332"
variation 522
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371759652"
variation 526
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377110124"
variation 530
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:139500557"
variation 544
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201934320"
variation 545
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:149278462"
variation 547
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147400498"
exon 550..736
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/inference="alignment:Splign:1.39.8"
variation 609
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:139712739"
variation 611
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="c"
/db_xref="dbSNP:150040269"
variation 621
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:193922598"
STS 652..806
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/standard_name="TCF1"
/db_xref="UniSTS:258304"
variation 689..691
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace=""
/replace="gaa"
/db_xref="dbSNP:193922599"
variation 693
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:193922600"
variation 716
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145240086"
exon 737..978
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/inference="alignment:Splign:1.39.8"
variation 740
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147630771"
variation 754
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="g"
/replace="t"
/db_xref="dbSNP:193922602"
variation 757
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="g"
/replace="t"
/db_xref="dbSNP:193922603"
variation 813
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="g"
/replace="t"
/db_xref="dbSNP:193922604"
variation 826
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:193922605"
variation 838
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:137853238"
variation 847
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="c"
/db_xref="dbSNP:199890776"
variation 850
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:137853245"
variation 887
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="g"
/db_xref="dbSNP:56348580"
variation 894
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:151256267"
variation 895
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:193922606"
variation 977
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:193922607"
variation 978
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:137853240"
exon 979..1130
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/inference="alignment:Splign:1.39.8"
variation 988
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140491072"
variation 1000
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369764257"
variation 1001
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200351196"
variation 1078
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="g"
/db_xref="dbSNP:151344538"
variation 1085
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373384579"
variation 1094
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376279459"
exon 1131..1332
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/inference="alignment:Splign:1.39.8"
variation 1152
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace=""
/replace="c"
/db_xref="dbSNP:193922576"
variation 1159
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="c"
/db_xref="dbSNP:371717826"
variation 1162
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="t"
/db_xref="dbSNP:111496840"
variation 1188
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="g"
/replace="t"
/db_xref="dbSNP:115080759"
variation 1249
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="c"
/db_xref="dbSNP:376044120"
variation 1253
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="g"
/db_xref="dbSNP:146605400"
variation 1266
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368683806"
variation 1272
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="g"
/replace="t"
/db_xref="dbSNP:377243343"
variation 1288
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:193922577"
variation 1295
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141324437"
variation 1298
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145112726"
variation 1331
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371967197"
exon 1333..1524
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/inference="alignment:Splign:1.39.8"
variation 1345
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="c"
/db_xref="dbSNP:371544082"
variation 1346
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:138996307"
variation 1349
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374808257"
variation 1363
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:137853236"
variation 1398
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2259820"
variation 1400
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:118028009"
variation 1409
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:143015301"
variation 1416
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:78886627"
variation 1418
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:148202451"
variation 1421
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:151344511"
variation 1428
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201811844"
variation 1447
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:193922580"
variation 1448
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145589373"
variation 1469
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:147366495"
variation 1483
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2464196"
variation 1517
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138145827"
variation 1520
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="c"
/db_xref="dbSNP:373577529"
variation 1523
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201694197"
variation 1524
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371807951"
exon 1525..1646
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/inference="alignment:Splign:1.39.8"
variation 1530..1531
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace=""
/replace="ct"
/db_xref="dbSNP:193922582"
variation 1555
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:143592417"
variation 1556
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147198532"
variation 1562
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:193922584"
variation 1564
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:202039659"
variation 1568
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:55834942"
variation 1578
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200639058"
variation 1615
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="g"
/db_xref="dbSNP:137853246"
variation 1616
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370300688"
variation 1625
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368694878"
variation 1633
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:372624970"
variation 1634
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199511735"
exon 1647..1791
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/inference="alignment:Splign:1.39.8"
variation 1686
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:193922587"
variation 1694
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:149755240"
variation 1712
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200716839"
variation 1726
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:144674840"
variation 1727
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:148520816"
variation 1742
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:142797154"
variation complement(1743)
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1169305"
variation 1745
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="c"
/db_xref="dbSNP:141304623"
variation 1752
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="g"
/db_xref="dbSNP:376832928"
variation 1763
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370733825"
variation 1768
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:193922589"
variation 1770
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="g"
/db_xref="dbSNP:137853239"
variation 1771
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:137853242"
variation 1779
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373857078"
exon 1792..3239
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/inference="alignment:Splign:1.39.8"
variation 1801
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="g"
/db_xref="dbSNP:200120574"
variation 1811
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201770880"
variation 1847
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace=""
/replace="c"
/db_xref="dbSNP:66489052"
variation 1871
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="c"
/db_xref="dbSNP:375702866"
variation 1872
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146855738"
variation 1877
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:193922591"
variation 1882
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:137853241"
variation 1892
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369953402"
variation 1921
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373808484"
variation 1924
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:112986697"
variation 1943
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368183052"
variation 1956
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="g"
/replace="t"
/db_xref="dbSNP:77223470"
variation 1959
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="g"
/db_xref="dbSNP:78184916"
variation 1964
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="t"
/db_xref="dbSNP:369513058"
variation 2016
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371683540"
STS 2062..2314
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/standard_name="D12S2088"
/db_xref="UniSTS:19481"
variation 2116
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1169309"
variation 2133
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:191295371"
variation 2145
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:182618441"
variation 2168
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="g"
/replace="t"
/db_xref="dbSNP:185557455"
variation 2227
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="g"
/replace="t"
/db_xref="dbSNP:189924813"
STS 2282..2396
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/standard_name="G15717"
/db_xref="UniSTS:61257"
variation 2357
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1169310"
variation 2366
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="t"
/db_xref="dbSNP:143731661"
variation 2478
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="c"
/db_xref="dbSNP:11612393"
variation 2508
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:55962050"
variation 2511
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="g"
/db_xref="dbSNP:373554058"
variation 2522
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:11065390"
variation 2665
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="g"
/db_xref="dbSNP:377265551"
variation 2741
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace=""
/replace="c"
/db_xref="dbSNP:56388051"
variation 2827
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140584786"
variation 2868
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:182096296"
variation 3187
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:41279096"
variation 3231
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="c"
/replace="t"
/db_xref="dbSNP:56335342"
variation 3232
/gene="HNF1A"
/gene_synonym="HNF-1A; HNF1; IDDM20; LFB1; MODY3; TCF-1;
TCF1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371649278"
ORIGIN
cgtggccctgtggcagccgagccatggtttctaaactgagccagctgcagacggagctcctggcggccctgctcgagtcagggctgagcaaagaggcactgatccaggcactgggtgagccggggccctacctcctggctggagaaggccccctggacaagggggagtcctgcggcggcggtcgaggggagctggctgagctgcccaatgggctgggggagactcggggctccgaggacgagacggacgacgatggggaagacttcacgccacccatcctcaaagagctggagaacctcagccctgaggaggcggcccaccagaaagccgtggtggagacccttctgcaggaggacccgtggcgtgtggcgaagatggtcaagtcctacctgcagcagcacaacatcccacagcgggaggtggtcgataccactggcctcaaccagtcccacctgtcccaacacctcaacaagggcactcccatgaagacgcagaagcgggccgccctgtacacctggtacgtccgcaagcagcgagaggtggcgcagcagttcacccatgcagggcagggagggctgattgaagagcccacaggtgatgagctaccaaccaagaaggggcggaggaaccgtttcaagtggggcccagcatcccagcagatcctgttccaggcctatgagaggcagaagaaccctagcaaggaggagcgagagacgctagtggaggagtgcaatagggcggaatgcatccagagaggggtgtccccatcacaggcacaggggctgggctccaacctcgtcacggaggtgcgtgtctacaactggtttgccaaccggcgcaaagaagaagccttccggcacaagctggccatggacacgtacagcgggccccccccagggccaggcccgggacctgcgctgcccgctcacagctcccctggcctgcctccacctgccctctcccccagtaaggtccacggtgtgcgctatggacagcctgcgaccagtgagactgcagaagtaccctcaagcagcggcggtcccttagtgacagtgtctacacccctccaccaagtgtcccccacgggcctggagcccagccacagcctgctgagtacagaagccaagctggtctcagcagctgggggccccctcccccctgtcagcaccctgacagcactgcacagcttggagcagacatccccaggcctcaaccagcagccccagaacctcatcatggcctcacttcctggggtcatgaccatcgggcctggtgagcctgcctccctgggtcctacgttcaccaacacaggtgcctccaccctggtcatcggcctggcctccacgcaggcacagagtgtgccggtcatcaacagcatgggcagcagcctgaccaccctgcagcccgtccagttctcccagccgctgcacccctcctaccagcagccgctcatgccacctgtgcagagccatgtgacccagagccccttcatggccaccatggctcagctgcagagcccccacgccctctacagccacaagcccgaggtggcccagtacacccacacgggcctgctcccgcagactatgctcatcaccgacaccaccaacctgagcgccctggccagcctcacgcccaccaagcaggtcttcacctcagacactgaggcctccagtgagtccgggcttcacacgccggcatctcaggccaccaccctccacgtccccagccaggaccctgccggcatccagcacctgcagccggcccaccggctcagcgccagccccacagtgtcctccagcagcctggtgctgtaccagagctcagactccagcaatggccagagccacctgctgccatccaaccacagcgtcatcgagaccttcatctccacccagatggcctcttcctcccagtaaccacggcacctgggccctggggcctgtactgcctgcttggggggtgatgagggcagcagccagccctgcctggaggacctgagcctgccgagcaaccgtggcccttcctggacagctgtgcctcgctccccactctgctctgatgcatcagaaagggagggctctgaggcgccccaacccgtggaggctgctcggggtgcacaggagggggtcgtggagagctaggagcaaagcctgttcatggcagatgtaggagggactgtcgctgcttcgtgggatacagtcttcttacttggaactgaagggggcggcctatgacttgggcacccccagcctgggcctatggagagccctgggaccgctacaccactctggcagccacacttctcaggacacaggcctgtgtagctgtgacctgctgagctctgagaggccctggatcagcgtggccttgttctgtcaccaatgtacccaccgggccactccttcctgccccaactccttccagctagtgacccacatgccatttgtactgaccccatcacctactcacacaggcatttcctgggtggctactctgtgccagagcctggggctctaacgcctgagcccagggaggccgaagctaacagggaaggcaggcagggctctcctggcttcccatccccagcgattccctctcccaggccccatgacctccagctttcctgtatttgttcccaagagcatcatgcctctgaggccagcctggcctcctgcctctactgggaaggctacttcggggctgggaagtcgtccttactcctgtgggagcctcgcaacccgtgccaagtccaggtcctggtggggcagctcctctgtctcgagcgccctgcagaccctgcccttgtttggggcaggagtagctgagctcacaaggcagcaaggcccgagcagctgagcagggccggggaactggccaagctgaggtgcccaggagaagaaagaggtgaccccagggcacaggagctacctgtgtggacaggactaacactcagaagcctgggggcctggctggctgagggcagttcgcagccaccctgaggagtctgaggtcctgagcactgccaggagggacaaaggagcctgtgaacccaggacaagcatggtcccacatccctgggcctgctgctgagaacctggccttcagtgtaccgcgtctaccctgggattcaggaaaaggcctggggtgacccggcaccccctgcagcttgtagccagccggggcgagtggcacgtttatttaacttttagtaaagtcaaggagaaatgcggtggaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:6927 -> Molecular function: GO:0001077 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] evidence: ISS
GeneID:6927 -> Molecular function: GO:0003677 [DNA binding] evidence: IDA
GeneID:6927 -> Molecular function: GO:0003690 [double-stranded DNA binding] evidence: IEA
GeneID:6927 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IDA
GeneID:6927 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:6927 -> Molecular function: GO:0008134 [transcription factor binding] evidence: IEA
GeneID:6927 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: IEA
GeneID:6927 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: IPI
GeneID:6927 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
GeneID:6927 -> Molecular function: GO:0044212 [transcription regulatory region DNA binding] evidence: IDA
GeneID:6927 -> Molecular function: GO:0046982 [protein heterodimerization activity] evidence: IDA
GeneID:6927 -> Molecular function: GO:0046982 [protein heterodimerization activity] evidence: IEA
GeneID:6927 -> Molecular function: GO:0046983 [protein dimerization activity] evidence: IPI
GeneID:6927 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: IEA
GeneID:6927 -> Biological process: GO:0001824 [blastocyst development] evidence: IEA
GeneID:6927 -> Biological process: GO:0001889 [liver development] evidence: IEA
GeneID:6927 -> Biological process: GO:0001890 [placenta development] evidence: IEA
GeneID:6927 -> Biological process: GO:0006338 [chromatin remodeling] evidence: IEA
GeneID:6927 -> Biological process: GO:0006357 [regulation of transcription from RNA polymerase II promoter] evidence: IDA
GeneID:6927 -> Biological process: GO:0006633 [fatty acid biosynthetic process] evidence: IEA
GeneID:6927 -> Biological process: GO:0006699 [bile acid biosynthetic process] evidence: IEA
GeneID:6927 -> Biological process: GO:0006783 [heme biosynthetic process] evidence: IEA
GeneID:6927 -> Biological process: GO:0006979 [response to oxidative stress] evidence: IEA
GeneID:6927 -> Biological process: GO:0008104 [protein localization] evidence: IEA
GeneID:6927 -> Biological process: GO:0008203 [cholesterol metabolic process] evidence: IEA
GeneID:6927 -> Biological process: GO:0009749 [response to glucose stimulus] evidence: IEA
GeneID:6927 -> Biological process: GO:0015721 [bile acid and bile salt transport] evidence: IEA
GeneID:6927 -> Biological process: GO:0015908 [fatty acid transport] evidence: IEA
GeneID:6927 -> Biological process: GO:0030073 [insulin secretion] evidence: IEA
GeneID:6927 -> Biological process: GO:0030073 [insulin secretion] evidence: IMP
GeneID:6927 -> Biological process: GO:0030111 [regulation of Wnt receptor signaling pathway] evidence: IEA
GeneID:6927 -> Biological process: GO:0030326 [embryonic limb morphogenesis] evidence: IEA
GeneID:6927 -> Biological process: GO:0031018 [endocrine pancreas development] evidence: IEA
GeneID:6927 -> Biological process: GO:0035565 [regulation of pronephros size] evidence: IMP
GeneID:6927 -> Biological process: GO:0035623 [renal glucose absorption] evidence: IMP
GeneID:6927 -> Biological process: GO:0042593 [glucose homeostasis] evidence: IMP
GeneID:6927 -> Biological process: GO:0043691 [reverse cholesterol transport] evidence: IEA
GeneID:6927 -> Biological process: GO:0045453 [bone resorption] evidence: IEA
GeneID:6927 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: IDA
GeneID:6927 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: ISS
GeneID:6927 -> Biological process: GO:0046323 [glucose import] evidence: IMP
GeneID:6927 -> Biological process: GO:0048341 [paraxial mesoderm formation] evidence: IEA
GeneID:6927 -> Biological process: GO:0048608 [reproductive structure development] evidence: IEA
GeneID:6927 -> Biological process: GO:0050796 [regulation of insulin secretion] evidence: IEA
GeneID:6927 -> Biological process: GO:0060261 [positive regulation of transcription initiation from RNA polymerase II promoter] evidence: IGI
GeneID:6927 -> Biological process: GO:0060395 [SMAD protein signal transduction] evidence: IEA
GeneID:6927 -> Cellular component: GO:0001750 [photoreceptor outer segment] evidence: IEA
GeneID:6927 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:6927 -> Cellular component: GO:0005667 [transcription factor complex] evidence: IEA
GeneID:6927 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:6927 -> Cellular component: GO:0043234 [protein complex] evidence: IDA
GeneID:6927 -> Cellular component: GO:0045120 [pronucleus] evidence: IEA
by
@meso_cacase at
DBCLS
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