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<!DOCTYPE html> <html lang="en-gb"> <head> <title>Variants for my gene</title> <link rel="stylesheet" type="text/css" media="all" href="/minified/98adc89a8b4418c03a4c81d5bf76272d.css"/><link rel="stylesheet" type="text/css" media="all" href="/minified/9bafd8bb591fb39bcb766b0160434c45.image.css"/> <link href="/i/ensembl-favicon.png" type="image/png" rel="icon" /> <link type="image/png" href="/apple-touch-icon.png" rel="apple-touch-icon" /> <link rel="search" type="application/opensearchdescription+xml" title="Ensembl (All)" href="//useast.ensembl.org/opensearch/all.xml" /> <meta name="google-site-verification" content="tG3WW0bg9gNaIHH002gJl-fV2k0bzf-ZxC8pBqXTaNo" /> <meta name="viewport" content="target-densitydpi=device-dpi, width=device-width, initial-scale=1.0, maximum-scale=2.0, user-scalable=yes" /> <script>var prefetch = 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sequences</b></a></li><li class="top_level"><img src="/i/leaf.gif" class="toggle expression.html" alt=""><a href="expression.html"><b>Gene Expression</b></a></li><li class="top_level"><img src="/i/leaf.gif" class="toggle compara.html" alt=""><a href="compara.html"><b>Compare genes across species</b></a></li><li class="top_level"><img src="/i/leaf.gif" class="toggle gene_snps.html" alt=""><a href="gene_snps.html"><b>Variants for my gene</b></a></li><li class="top_level"><img src="/i/leaf.gif" class="toggle phenotype.html" alt=""><a href="phenotype.html"><b>Diseases and Phenotypes</b></a></li><li class="top_level"><img src="/i/leaf.gif" class="toggle grch37.html" alt=""><a href="grch37.html"><b>The GRCh37 assembly in Ensembl</b></a></li><li class="last"><img src="/i/leaf.gif" class="toggle userdata.html" alt=""><a href="userdata.html"><b>Use my own data</b></a></li> </ul> <div class="js_panel" style="margin:16px 0 0 8px"> <input type="hidden" class="panel_type" value="SearchBox" /> <form 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my gene</h1> </div> <div class="column-wrapper"> <div class="column-two"> <div class="column-left"> <h2>Variation Table</h2> <p>Find short variants for a gene from dbSNP, COSMIC, and <a href="/info/genome/variation/species/sources_documentation.html">other sources</a> in the <a href="/Homo_sapiens/Gene/Variation_Gene/Table?g=ENSG00000139618;r=13:32889611-32973805">Gene Variation table</a>.</p> <p>Since this table can contain many variants, we suggest filtering by <a href="/info/genome/variation/prediction/predicted_data.html">consequence type</a>.</p> <div class="screenshot center small"> <a href="/Homo_sapiens/Gene/Variation_Gene/Table?db=core;g=ENSG00000139618;r=13:32889611-32973805"><img src="/img/Variation_fig_1_thumb.png" class="screenshot"></a> <a href="/img/Variation_fig_1.png">[Click to enlarge]</a> </div> <p>Find out more:</p> <ul> <li><a href="/Help/View?id=376">Gene Variation Table help page</a></li> </ul> <h2>Gene sequence</h2> <p>View variants within the nucleotide sequence in the <a href="/Homo_sapiens/Gene/Seq uence?g=ENSG00000139618;r=13:32889611- 32973805">Gene Sequence</a> view.</p> <div class="screenshot center small"> <a href="/Homo_sapiens/Gene/Sequence?g=ENSG00000139618;r=13:32889611-32973805;config=snp_display=yes"><img src="/img/Variation_fig_3_thumb.jpg" class="screenshot"></a> <a href="/img/Variation_fig_3.jpg">[Click to enlarge]</a> </div> <p>Find out more:</p> <ul> <li><a href="/Help/View?id=165">Gene Sequence help page</a></li> </ul> <a href="/Help/Movie?id=214" class="popup"><img src="/img/movie_214.png" class="screenshot"></a> </div> </div> <div class="column-two"> <div class="column-right" style="padding-left:2em"> <div class="plain-box"> <p>In all views, click on any Variant to find population frequencies, alleles, and more in the <a href="/Homo_sapiens/Variation/Explore?db=core;g=ENSG00000139618;r=13:32889611-32973805;source=dbSNP;v=rs1333049;vdb=variation;vf=24133161">variation tab</a>.</p> <p>Find out more:</p> <ul> <li><a href="/info/genome/variation/index.html">Variation documentation</a></li> <li><a href="/info/website/tutorials/Ensembl_variation_quick_reference_card.pdf">Quick Reference Card</a></li> </ul> </div> <h2>Variants along the genome</h2> <p>View variants along the genome in the <a href="/Homo_sapiens/Share/c9b1f3c0df5f457d91a462189a91942899009939">Location tab</a>. Choose different types and sources, for example 1000 Genomes populations, ClinVar (clinically associated), OMIM and HGMD (public set).</p> <div class="screenshot center small"> <a href="/Homo_sapiens/Location/View?db=core;g=ENSG00000139618;q=BRCA2;r=13:32911468-32911490"><img src="/img/Variation_fig_4_thumb.jpg" class="screenshot"></a> <a href="/img/Variation_fig_4.jpg">[Click to enlarge]</a> </div> <p>Find out more:</p> <ul> <li><a href="/Help/View?id=140">Region in Detail help page</a></li> </ul> <p>You can also browse SNPs throughout the genome - find out how in this video:</p> <a href="/Help/Movie?id=208" class="popup"><img src="/img/movie_208.png" class="screenshot"></a> </div> </div> </div> </div> <div class="column-wrapper"> </div> </div></div> </div> <div id="footer"> <div class="column-wrapper"> <div class="column-two left"> <p>Ensembl release 113 - October 2024 © <span class="print_hide"><a href="http://www.ebi.ac.uk/" class="nowrap constant">EMBL-EBI</a></span> <span 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value=Camelus_dromedarius|Ovis_aries_texel|Anser_cygnoides|Sus_scrofa_bamei|Ovis_aries_white_dorper|Labrus_bergylta|Pan_troglodytes|Mus_musculus_NZO_HlLtJ|Hippocampus_comes|Mus_musculus_DBA_2J|Nothoprocta_perdicaria|Piliocolobus_tephrosceles|Ovis_aries_polled_dorset|Anabas_testudineus|Gallus_gallus_GCA_016700215.2|Panthera_tigris_altaica|Strigops_habroptila|Pelodiscus_sinensis|Choloepus_hoffmanni|Salmo_salar_european_origin_alta|Cyprinus_carpio_carpio|Chelonoidis_abingdonii|Monopterus_albus|Sus_scrofa_duroc|Cyprinus_carpio_huanghe|Equus_asinus|Sander_lucioperca|Myripristis_murdjan|Zosterops_lateralis_melanops|Astyanax_mexicanus|Electrophorus_electricus|Amphiprion_percula|Cervus_hanglu_yarkandensis|Oreochromis_niloticus|Amphiprion_ocellaris|Erinaceus_europaeus|Loxodonta_africana|Parambassis_ranga|Gopherus_evgoodei|Oryzias_latipes_hsok|Denticeps_clupeoides|Kryptolebias_marmoratus|Sus_scrofa_meishan_GCA_017957985.1|Capra_hircus_xinong_saanen_dairy|Felis_catus|Bos_mutus|Mustela_putorius_furo|Ursus_maritimus|Coturnix_japonica|Apteryx_haastii|Dasypus_novemcinctus|Sus_scrofa_tibetan|Balaenoptera_musculus|Cyprinus_carpio_hebao_red|Neovison_vison|Rattus_norvegicus_SHRUtx|Panthera_leo|Danio_rerio|Oncorhynchus_mykiss|Tupaia_belangeri|Ursus_americanus|Corvus_moneduloides|Mus_musculus|Lates_calcarifer|Nothobranchius_furzeri|Numida_meleagris|Scleropages_formosus|Salvator_merianae|Catagonus_wagneri|Pan_paniscus|Pteropus_vampyrus|Canis_lupus_familiaris|Otus_sunia|Zonotrichia_albicollis|Cavia_porcellus|Sphaeramia_orbicularis|Stachyris_ruficeps|Sus_scrofa_ningxiang|Poecilia_reticulata|Phocoena_sinus|Scophthalmus_maximus|Prolemur_simus|Sus_scrofa_hampshire|Naja_naja|Canis_lupus_familiarisboxer|Amphilophus_citrinellus|Vulpes_vulpes|Sorex_araneus|Sus_scrofa_pb115|Equus_caballus|Sinocyclocheilus_rhinocerous|Mus_musculus_A_J|Fukomys_damarensis|Ursus_thibetanus_thibetanus|Buteo_japonicus|Carlito_syrichta|Papio_anubis|Cottoperca_gobio|Pogona_vitticeps|Tetraodon_nigroviridis|Podarcis_muralis|Ovis_aries_chinese_merino|Capra_hircus_saanen_dairy|Gasterosteus_aculeatus_marine_syl|Sus_scrofa_usmarc|Ictidomys_tridecemlineatus|Zalophus_californianus|Canis_lupus_familiarisgreatdane|Erythrura_gouldiae|Fundulus_heteroclitus|Apteryx_rowi|Terrapene_carolina_triunguis|Callithrix_jacchus|Xiphophorus_maculatus|Gorilla_gorilla|Marmota_marmota_marmota|Mus_musculus_129S1_SvImJ|Cyanistes_caeruleus|Anas_zonorhyncha|Rattus_norvegicus|Ailuropoda_melanoleuca|Mus_musculus_AKR_J|Pundamilia_nyererei|Capra_hircus|Meleagris_gallopavo|Bos_taurus_hybrid|Colobus_angolensis_palliatus|Jaculus_jaculus|Lepisosteus_oculatus|Laticauda_laticaudata|Saimiri_boliviensis_boliviensis|Lynx_canadensis|Poecilia_latipinna|Accipiter_nisus|Ovis_aries_east_friesian|Camarhynchus_parvulus|Macaca_nemestrina|Aquila_chrysaetos_chrysaetos|Mus_musculus_WSB_EiJ|Sinocyclocheilus_anshuiensis|Chrysolophus_pictus|Suricata_suricatta|Pseudonaja_textilis|Ochotona_princeps|Bos_taurus|Mus_musculus_C57BL_6NJ|Gouania_willdenowi|Mus_musculus_FVB_NJ|Mus_musculus_NOD_ShiLtJ|Macaca_mulatta|Chelydra_serpentina|Monodon_monoceros|Astatotilapia_calliptera|Carassius_auratus|Caenorhabditis_elegans|Octodon_degus|Gasterosteus_aculeatus_marine_bam|Apteryx_owenii|Rhinopithecus_roxellana|Ovis_aries_hu|Calidris_pugnax|Takifugu_rubripes|Anas_platyrhynchos_platyrhynchos|Nomascus_leucogenys|Canis_lupus_familiarisbasenji|Sus_scrofa_jinhua|Bison_bison_bison|Sus_scrofa_berkshire|Mus_musculus_C3H_HeJ|Seriola_lalandi_dorsalis|Rattus_norvegicus_WKYBbb|Callorhinchus_milii|Rhinolophus_ferrumequinum|Monodelphis_domestica|Meriones_unguiculatus|Struthio_camelus_australis|Erpetoichthys_calabaricus|Anas_platyrhynchos|Poecilia_mexicana|Sinocyclocheilus_grahami|Paramormyrops_kingsleyae|Cebus_imitator|Oryzias_sinensis|Eptatretus_burgeri|Catharus_ustulatus|Pavo_cristatus|Mus_musculus_LP_J|Echinops_telfairi|Mola_mola|Manacus_vitellinus|Cairina_moschata_domestica|Gopherus_agassizii|Strix_occidentalis_caurina|Sciurus_vulgaris|Ficedula_albicollis|Mus_musculus_PWK_PhJ|Sus_scrofa_nihs_2020|Notamacropus_eugenii|Urocitellus_parryii|Oryzias_javanicus|Neogobius_melanostomus|Oreochromis_aureus|Panthera_pardus|Anolis_carolinensis|Gadus_morhua|Stegastes_partitus|Gallus_gallus|Ovis_aries_rambouillet|Anser_brachyrhynchus|Latimeria_chalumnae|Maylandia_zebra|Macaca_fascicularis|Pongo_abelii|Mesocricetus_auratus|Serinus_canaria|Phascolarctos_cinereus|Mus_caroli|Myotis_lucifugus|Ornithorhynchus_anatinus|Bos_grunniens|Salmo_trutta|Geospiza_fortis|Calidris_pygmaea|Delphinapterus_leucas|Amazona_collaria|Gallus_gallus_GCA_000002315.5|Spermophilus_dauricus|Oryzias_latipes_hni|Sus_scrofa_ossabaw_miniature|Drosophila_melanogaster|Ovis_aries_kermani|Oryctolagus_cuniculus|Periophthalmus_magnuspinnatus|Cavia_aperea|Mandrillus_leucophaeus|Saccharomyces_cerevisiae|Peromyscus_maniculatus_bairdii|Echeneis_naucrates|Gasterosteus_aculeatus|Rattus_norvegicus_SHRSPBbbUtx|Procavia_capensis|Haplochromis_burtoni|Chlorocebus_sabaeus|Physeter_catodon|Sus_scrofa_rongchang|Ciona_savignyi|Cyprinodon_variegatus|Pygocentrus_nattereri|Mus_musculus_CAST_EiJ|Sphenodon_punctatus|Salmo_salar_north_american_atlantic_salmon|Chrysemys_picta_bellii|Propithecus_coquereli|Moschus_moschiferus|Oryzias_latipes|Mus_spretus|Sus_scrofa_meishan|Malurus_cyaneus_samueli|Dicentrarchus_labrax|Pelusios_castaneus|Gambusia_affinis|Vombatus_ursinus|Sus_scrofa_pietrain|Sus_scrofa_wuzhishan|Castor_canadensis|Falco_tinnunculus|Heterocephalus_glaber_female|Ovis_aries_qiaoke|Gadus_morhua_celtic_sea|Sarcophilus_harrisii|Cercocebus_atys|Gasterosteus_aculeatus_freshwater_bot|Oncorhynchus_kisutch|Cynoglossus_semilaevis|Ovis_aries_romanov|Dromaius_novaehollandiae|Sus_scrofa_bama_miniature|Theropithecus_gelada|Dipodomys_ordii|Salarias_fasciatus|Acanthochromis_polyacanthus|Rhinopithecus_bieti|Ciona_intestinalis|Microcebus_murinus|Oryzias_melastigma|Notechis_scutatus|Junco_hyemalis|Varanus_komodoensis|Mus_pahari|Homo_sapiens|Phasianus_colchicus|Bos_indicus_hybrid|Ictalurus_punctatus|Canis_lupus_dingo|Mus_musculus_BALB_cJ|Mus_spicilegus|Sparus_aurata|Xiphophorus_couchianus|Bubo_bubo|Leptobrachium_leishanense|Chinchilla_lanigera|Lonchura_striata_domestica|Cricetulus_griseus_crigri|Vicugna_pacos|Betta_splendens|Lepidothrix_coronata|Hucho_hucho|Parus_major|Aotus_nancymaae|Oncorhynchus_tshawytscha|Petromyzon_marinus|Astyanax_mexicanus_pachon|Cricetulus_griseus_picr|Nannospalax_galili|Cyclopterus_lumpus|Sus_scrofa_largewhite|Sus_scrofa|Canis_lupus_familiarisgermanshepherd|Heterocephalus_glaber_male|Melopsittacus_undulatus|Otolemur_garnettii|Mastacembelus_armatus|Poecilia_formosa|Salmo_salar|Tursiops_truncatus|Larimichthys_crocea|Athene_cunicularia|Sus_scrofa_landrace|Cricetulus_griseus_chok1gshd|Microtus_ochrogaster|Capra_hircus_blackbengal|Crocodylus_porosus|Seriola_dumerili|Esox_lucius|Neolamprologus_brichardi|Sus_scrofa_euw1|Salmo_salar_north_american_origin_brian|Taeniopygia_guttata|Cyprinus_carpio_german_mirror|Clupea_harengus|Xenopus_tropicalis|Mus_musculus_CBA_J> 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