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122 records found for search term Cc2d1b
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405753879CV3292200single nucleotide variantNM_001330585.2(CC2D1B):c.23G>A (p.Arg8Gln)not specified [RCV004432529]uncertain significance15236459852364598Humanname
598176514CV3950497single nucleotide variantNM_001330585.2(CC2D1B):c.17G>A (p.Arg6Lys)not specified [RCV005310043]uncertain significance15236460452364604Humanname
156282068CV2348827single nucleotide variantNM_001330585.2(CC2D1B):c.52G>A (p.Val18Met)not specified [RCV004203271]uncertain significance15236456952364569Humanname
401927707CV2812798single nucleotide variantNM_001330585.2(CC2D1B):c.399T>G (p.Ser133=)not provided [RCV003406490]likely benign15236105252361052Humanname
156285434CV2360794single nucleotide variantNM_001330585.2(CC2D1B):c.139G>C (p.Asp47His)not specified [RCV004213571]uncertain significance15236267752362677Humanname
401896343CV2781091single nucleotide variantNM_001330585.2(CC2D1B):c.256T>C (p.Cys86Arg)not specified [RCV004358464]uncertain significance15236157552361575Humanname
597785958CV3637872single nucleotide variantNM_001330585.2(CC2D1B):c.173A>C (p.Glu58Ala)not specified [RCV004900860]uncertain significance15236264352362643Humanname
597785980CV3637879single nucleotide variantNM_001330585.2(CC2D1B):c.223C>T (p.Pro75Ser)not specified [RCV004900866]uncertain significance15236160852361608Humanname
597760606CV3637882single nucleotide variantNM_001330585.2(CC2D1B):c.122A>C (p.Glu41Ala)not specified [RCV004894807]uncertain significance15236269452362694Humanname
15175533CV696790single nucleotide variantNM_001330585.2(CC2D1B):c.1533G>T (p.Leu511=)not provided [RCV000950608]benign15235782752357827Humanname
15112320CV707450single nucleotide variantNM_001330585.2(CC2D1B):c.2370C>T (p.Gly790=)not provided [RCV000961280]benign15235466852354668Humanname
15164807CV746548single nucleotide variantNM_001330585.2(CC2D1B):c.2076C>T (p.Ser692=)not provided [RCV000926473]benign15235582352355823Humanname
156067652CV2221880single nucleotide variantNM_001330585.2(CC2D1B):c.433C>T (p.Pro145Ser)not specified [RCV004102901]uncertain significance15236101852361018Humanname
155977801CV2246928single nucleotide variantNM_001330585.2(CC2D1B):c.362C>A (p.Pro121His)not specified [RCV004112725]uncertain significance15236108952361089Humanname
155966760CV2280132single nucleotide variantNM_001330585.2(CC2D1B):c.449T>A (p.Val150Asp)not specified [RCV004146783]uncertain significance15236100252361002Humanname
156060937CV2280303single nucleotide variantNM_001330585.2(CC2D1B):c.682G>C (p.Gly228Arg)not specified [RCV004140503]uncertain significance15236015552360155Humanname
155918285CV2283518single nucleotide variantNM_001330585.2(CC2D1B):c.406G>A (p.Glu136Lys)not specified [RCV004139732]uncertain significance15236104552361045Humanname
156207962CV2298083single nucleotide variantNM_001330585.2(CC2D1B):c.917C>T (p.Ala306Val)not specified [RCV004157972]uncertain significance15235973052359730Humanname
156356971CV2318217single nucleotide variantNM_001330585.2(CC2D1B):c.914G>T (p.Arg305Leu)not specified [RCV004179402]uncertain significance15235973352359733Humanname
155999345CV2373406single nucleotide variantNM_001330585.2(CC2D1B):c.905A>G (p.Glu302Gly)not specified [RCV004220107]uncertain significance15235974252359742Humanname
156047350CV2390933single nucleotide variantNM_001330585.2(CC2D1B):c.920G>T (p.Arg307Leu)not specified [RCV004234944]uncertain significance15235972752359727Humanname
156256931CV2397824single nucleotide variantNM_001330585.2(CC2D1B):c.425C>G (p.Thr142Ser)not specified [RCV004239297]uncertain significance15236102652361026Humanname
329362595CV2444783single nucleotide variantNM_001330585.2(CC2D1B):c.533G>A (p.Arg178Gln)not specified [RCV004259027]uncertain significance15236049452360494Humanname
329401070CV2445936single nucleotide variantNM_001330585.2(CC2D1B):c.890C>T (p.Ala297Val)not specified [RCV004270535]uncertain significance15235975752359757Humanname
329397503CV2466259single nucleotide variantNM_001330585.2(CC2D1B):c.881C>T (p.Ala294Val)not specified [RCV004279884]uncertain significance15235976652359766Humanname
401729847CV2686969single nucleotide variantNM_001330585.2(CC2D1B):c.767A>G (p.Asn256Ser)not specified [RCV004304299]uncertain significance15235988052359880Humanname
401764983CV2701654single nucleotide variantNM_001330585.2(CC2D1B):c.412G>A (p.Gly138Ser)not specified [RCV004314068]uncertain significance15236103952361039Humanname
401753368CV2722445single nucleotide variantNM_001330585.2(CC2D1B):c.508C>G (p.Leu170Val)not specified [RCV004322839]uncertain significance15236051952360519Humanname
401890048CV2758478single nucleotide variantNM_001330585.2(CC2D1B):c.427G>C (p.Glu143Gln)not specified [RCV004335126]uncertain significance15236102452361024Humanname
405753897CV3292203single nucleotide variantNM_001330585.2(CC2D1B):c.320C>T (p.Thr107Met)not specified [RCV004432532]uncertain significance15236113152361131Humanname
405753904CV3292204single nucleotide variantNM_001330585.2(CC2D1B):c.343G>A (p.Val115Met)not specified [RCV004432533]uncertain significance15236110852361108Humanname
405753919CV3292206single nucleotide variantNM_001330585.2(CC2D1B):c.425C>T (p.Thr142Ile)not specified [RCV004432535]likely benign15236102652361026Humanname
405753923CV3292207single nucleotide variantNM_001330585.2(CC2D1B):c.430C>T (p.Pro144Ser)not specified [RCV004432536]uncertain significance15236102152361021Humanname
405753931CV3292208single nucleotide variantNM_001330585.2(CC2D1B):c.511G>A (p.Glu171Lys)not specified [RCV004432537]uncertain significance15236051652360516Humanname
405753938CV3292209single nucleotide variantNM_001330585.2(CC2D1B):c.614C>T (p.Ser205Leu)not specified [RCV004432538]uncertain significance15236022352360223Humanname
405753946CV3292210single nucleotide variantNM_001330585.2(CC2D1B):c.737C>T (p.Pro246Leu)not specified [RCV004432539]uncertain significance15236010052360100Humanname
405753959CV3292212single nucleotide variantNM_001330585.2(CC2D1B):c.988G>A (p.Asp330Asn)not specified [RCV004432541]uncertain significance15235948952359489Humanname
407482832CV3422043single nucleotide variantNM_001330585.2(CC2D1B):c.541G>A (p.Ala181Thr)not specified [RCV004602734]uncertain significance15236048652360486Humanname
407482854CV3422047single nucleotide variantNM_001330585.2(CC2D1B):c.871A>G (p.Lys291Glu)not specified [RCV004602738]uncertain significance15235977652359776Humanname
407482865CV3422049single nucleotide variantNM_001330585.2(CC2D1B):c.916G>A (p.Ala306Thr)not specified [RCV004602740]uncertain significance15235973152359731Humanname
407454420CV3422053single nucleotide variantNM_001330585.2(CC2D1B):c.487T>C (p.Ser163Pro)not specified [RCV004609799]likely benign15236054052360540Humanname
597760594CV3637859single nucleotide variantNM_001330585.2(CC2D1B):c.538G>T (p.Ala180Ser)not specified [RCV004894804]uncertain significance15236048952360489Humanname
597785942CV3637867single nucleotide variantNM_001330585.2(CC2D1B):c.308C>G (p.Ala103Gly)not specified [RCV004900856]uncertain significance15236152352361523Humanname
597760603CV3637868single nucleotide variantNM_001330585.2(CC2D1B):c.506T>C (p.Leu169Ser)not specified [RCV004894806]uncertain significance15236052152360521Humanname
597785946CV3637869single nucleotide variantNM_001330585.2(CC2D1B):c.537G>C (p.Glu179Asp)not specified [RCV004900857]uncertain significance15236049052360490Humanname
597785954CV3637871single nucleotide variantNM_001330585.2(CC2D1B):c.371G>A (p.Gly124Asp)not specified [RCV004900859]uncertain significance15236108052361080Humanname
598176525CV3950499single nucleotide variantNM_001330585.2(CC2D1B):c.913C>T (p.Arg305Cys)not specified [RCV005310045]uncertain significance15235973452359734Humanname
598176556CV3950504single nucleotide variantNM_001330585.2(CC2D1B):c.429A>C (p.Glu143Asp)not specified [RCV005310050]uncertain significance15236102252361022Humanname
156372820CV2204591single nucleotide variantNM_001330585.2(CC2D1B):c.1835A>T (p.Glu612Val)not specified [RCV004081699]uncertain significance15235704452357044Humanname
156238683CV2217081single nucleotide variantNM_001330585.2(CC2D1B):c.2284G>A (p.Gly762Ser)not specified [RCV004085759]uncertain significance15235489552354895Humanname
156231971CV2227645single nucleotide variantNM_001330585.2(CC2D1B):c.1744C>A (p.Leu582Met)not specified [RCV004094049]uncertain significance15235753452357534Humanname
156184259CV2239159single nucleotide variantNM_001330585.2(CC2D1B):c.1111G>A (p.Val371Ile)not specified [RCV004112147]likely benign15235926552359265Humanname
156308139CV2249472single nucleotide variantNM_001330585.2(CC2D1B):c.1876G>C (p.Glu626Gln)not specified [RCV004120524]uncertain significance15235700352357003Humanname
156365889CV2272194single nucleotide variantNM_001330585.2(CC2D1B):c.1653C>G (p.Ser551Arg)not specified [RCV004124964]uncertain significance15235762552357625Humanname
156250438CV2311220single nucleotide variantNM_001330585.2(CC2D1B):c.1322T>C (p.Val441Ala)not specified [RCV004166307]uncertain significance15235869452358694Humanname
156177242CV2317229single nucleotide variantNM_001330585.2(CC2D1B):c.1073C>G (p.Pro358Arg)not specified [RCV004178728]uncertain significance15235930352359303Humanname
156179067CV2327632single nucleotide variantNM_001330585.2(CC2D1B):c.1294C>T (p.Arg432Trp)not specified [RCV004177215]uncertain significance15235872252358722Humanname
156327268CV2332080single nucleotide variantNM_001330585.2(CC2D1B):c.1646A>T (p.Lys549Met)not specified [RCV004189126]uncertain significance15235763252357632Humanname
156339681CV2351620single nucleotide variantNM_001330585.2(CC2D1B):c.1811T>A (p.Leu604Gln)not specified [RCV004195337]uncertain significance15235706852357068Humanname
156188393CV2395423single nucleotide variantNM_001330585.2(CC2D1B):c.1036G>A (p.Ala346Thr)not specified [RCV004241296]uncertain significance15235934052359340Humanname
156059175CV2396553single nucleotide variantNM_001330585.2(CC2D1B):c.1628G>A (p.Arg543Gln)not specified [RCV004242257]uncertain significance15235765052357650Humanname
329357663CV2427795single nucleotide variantNM_001330585.2(CC2D1B):c.2194G>C (p.Ala732Pro)not specified [RCV004252573]uncertain significance15235544352355443Humanname
329356793CV2431148single nucleotide variantNM_001330585.2(CC2D1B):c.2393G>A (p.Arg798Gln)not specified [RCV004250500]uncertain significance15235464552354645Humanname
329388222CV2437216single nucleotide variantNM_001330585.2(CC2D1B):c.1832A>C (p.Glu611Ala)not specified [RCV004256107]uncertain significance15235704752357047Humanname
329354367CV2448053single nucleotide variantNM_001330585.2(CC2D1B):c.1222G>A (p.Glu408Lys)not specified [RCV004263280]uncertain significance15235906252359062Humanname
329371698CV2454847single nucleotide variantNM_001330585.2(CC2D1B):c.2254T>G (p.Phe752Val)not specified [RCV004270353]uncertain significance15235492552354925Humanname
401727781CV2678442single nucleotide variantNM_001330585.2(CC2D1B):c.1529G>T (p.Arg510Leu)not specified [RCV004292462]uncertain significance15235783152357831Humanname
401743337CV2687925single nucleotide variantNM_001330585.2(CC2D1B):c.1547C>A (p.Ala516Asp)not specified [RCV004305015]uncertain significance15235781352357813Humanname
401730556CV2711394single nucleotide variantNM_001330585.2(CC2D1B):c.1295G>A (p.Arg432Gln)not specified [RCV004313150]uncertain significance15235872152358721Humanname
401877023CV2767799single nucleotide variantNM_001330585.2(CC2D1B):c.1960C>A (p.Arg654Ser)not specified [RCV004345921]uncertain significance15235628052356280Humanname
401886858CV2767938single nucleotide variantNM_001330585.2(CC2D1B):c.1727C>G (p.Ser576Cys)not specified [RCV004348190]uncertain significance15235755152357551Humanname
401892185CV2775987single nucleotide variantNM_001330585.2(CC2D1B):c.2161C>T (p.Arg721Trp)not specified [RCV004345002]uncertain significance15235563452355634Humanname
401894407CV2777154single nucleotide variantNM_001330585.2(CC2D1B):c.2270A>G (p.Asn757Ser)not specified [RCV004354200]uncertain significance15235490952354909Humanname
401883061CV2788636single nucleotide variantNM_001330585.2(CC2D1B):c.2455G>C (p.Gly819Arg)not specified [RCV004361125]uncertain significance15235362352353623Humanname
401872126CV2792987single nucleotide variantNM_001330585.2(CC2D1B):c.1724G>A (p.Arg575Gln)not specified [RCV004360326]uncertain significance15235755452357554Humanname
405753779CV3292186single nucleotide variantNM_001330585.2(CC2D1B):c.1124C>T (p.Pro375Leu)not specified [RCV004432515]uncertain significance15235925252359252Humanname
405753786CV3292187single nucleotide variantNM_001330585.2(CC2D1B):c.1381G>A (p.Ala461Thr)not specified [RCV004432516]uncertain significance15235841152358411Humanname
405753792CV3292188single nucleotide variantNM_001330585.2(CC2D1B):c.1526A>G (p.Gln509Arg)not specified [RCV004432517]likely benign15235783452357834Humanname
405753800CV3292189single nucleotide variantNM_001330585.2(CC2D1B):c.1649G>A (p.Arg550His)not specified [RCV004432518]uncertain significance15235762952357629Humanname
405753807CV3292190single nucleotide variantNM_001330585.2(CC2D1B):c.1727C>T (p.Ser576Phe)not specified [RCV004432519]uncertain significance15235755152357551Humanname
405753813CV3292191single nucleotide variantNM_001330585.2(CC2D1B):c.1753G>A (p.Val585Met)not specified [RCV004432520]uncertain significance15235712652357126Humanname
405753820CV3292192single nucleotide variantNM_001330585.2(CC2D1B):c.1766T>C (p.Leu589Ser)not specified [RCV004432521]uncertain significance15235711352357113Humanname
405753827CV3292193single nucleotide variantNM_001330585.2(CC2D1B):c.1843G>A (p.Ala615Thr)not specified [RCV004432522]uncertain significance15235703652357036Humanname
405753835CV3292194single nucleotide variantNM_001330585.2(CC2D1B):c.1912C>G (p.Gln638Glu)not specified [RCV004432523]uncertain significance15235640952356409Humanname
405753841CV3292195single nucleotide variantNM_001330585.2(CC2D1B):c.2084T>C (p.Met695Thr)not specified [RCV004432524]uncertain significance15235581552355815Humanname
405753848CV3292196single nucleotide variantNM_001330585.2(CC2D1B):c.2085G>C (p.Met695Ile)not specified [RCV004432525]uncertain significance15235581452355814Humanname
405753857CV3292197single nucleotide variantNM_001330585.2(CC2D1B):c.2140G>A (p.Asp714Asn)not specified [RCV004432526]uncertain significance15235565552355655Humanname
405753865CV3292198single nucleotide variantNM_001330585.2(CC2D1B):c.2282G>A (p.Arg761Gln)not specified [RCV004432527]uncertain significance15235489752354897Humanname
405753871CV3292199single nucleotide variantNM_001330585.2(CC2D1B):c.2319G>T (p.Lys773Asn)not specified [RCV004432528]uncertain significance15235486052354860Humanname
405753885CV3292201single nucleotide variantNM_001330585.2(CC2D1B):c.2398G>C (p.Glu800Gln)not specified [RCV004432530]uncertain significance15235464052354640Humanname
405753891CV3292202single nucleotide variantNM_001330585.2(CC2D1B):c.2404G>A (p.Glu802Lys)not specified [RCV004432531]uncertain significance15235463452354634Humanname
407482821CV3422041single nucleotide variantNM_001330585.2(CC2D1B):c.1007C>T (p.Pro336Leu)not specified [RCV004602732]uncertain significance15235947052359470Humanname
407482826CV3422042single nucleotide variantNM_001330585.2(CC2D1B):c.1333T>C (p.Phe445Leu)not specified [RCV004602733]uncertain significance15235845952358459Humanname
407482838CV3422044single nucleotide variantNM_001330585.2(CC2D1B):c.1691C>T (p.Ala564Val)not specified [RCV004602735]uncertain significance15235758752357587Humanname
407482842CV3422045single nucleotide variantNM_001330585.2(CC2D1B):c.2509G>A (p.Val837Met)not specified [RCV004602736]likely benign15235356952353569Humanname
407482847CV3422046single nucleotide variantNM_001330585.2(CC2D1B):c.1101G>A (p.Met367Ile)not specified [RCV004602737]uncertain significance15235927552359275Humanname
407482859CV3422048single nucleotide variantNM_001330585.2(CC2D1B):c.2407T>C (p.Cys803Arg)not specified [RCV004602739]uncertain significance15235463152354631Humanname
407482871CV3422050single nucleotide variantNM_001330585.2(CC2D1B):c.1685G>A (p.Arg562Gln)not specified [RCV004602741]uncertain significance15235759352357593Humanname
407482878CV3422051single nucleotide variantNM_001330585.2(CC2D1B):c.1246C>T (p.Arg416Cys)not specified [RCV004602742]uncertain significance15235903852359038Humanname
407482884CV3422052single nucleotide variantNM_001330585.2(CC2D1B):c.2125C>T (p.Pro709Ser)not specified [RCV004602743]uncertain significance15235577452355774Humanname
597785909CV3637854single nucleotide variantNM_001330585.2(CC2D1B):c.2014C>G (p.Pro672Ala)not specified [RCV004900847]uncertain significance15235622652356226Humanname
597785913CV3637856single nucleotide variantNM_001330585.2(CC2D1B):c.2162G>A (p.Arg721Gln)not specified [RCV004900848]uncertain significance15235563352355633Humanname
597785917CV3637857single nucleotide variantNM_001330585.2(CC2D1B):c.1528C>T (p.Arg510Cys)not specified [RCV004900849]uncertain significance15235783252357832Humanname
597785920CV3637858single nucleotide variantNM_001330585.2(CC2D1B):c.1365G>C (p.Met455Ile)not specified [RCV004900850]uncertain significance15235842752358427Humanname
597785924CV3637860single nucleotide variantNM_001330585.2(CC2D1B):c.2555T>C (p.Leu852Ser)not specified [RCV004900851]uncertain significance15235352352353523Humanname
597785928CV3637861single nucleotide variantNM_001330585.2(CC2D1B):c.1884C>G (p.Cys628Trp)not specified [RCV004900852]uncertain significance15235643752356437Humanname
597760599CV3637862single nucleotide variantNM_001330585.2(CC2D1B):c.1885C>G (p.Leu629Val)not specified [RCV004894805]uncertain significance15235643652356436Humanname
597785932CV3637863single nucleotide variantNM_001330585.2(CC2D1B):c.1250T>C (p.Ile417Thr)not specified [RCV004900853]uncertain significance15235903452359034Humanname
597785936CV3637865single nucleotide variantNM_001330585.2(CC2D1B):c.1995G>C (p.Gln665His)not specified [RCV004900854]uncertain significance15235624552356245Humanname
597785940CV3637866single nucleotide variantNM_001330585.2(CC2D1B):c.1760C>T (p.Ser587Leu)not specified [RCV004900855]uncertain significance15235711952357119Humanname
597785950CV3637870single nucleotide variantNM_001330585.2(CC2D1B):c.1574C>T (p.Pro525Leu)not specified [RCV004900858]uncertain significance15235778652357786Humanname
597785962CV3637873single nucleotide variantNM_001330585.2(CC2D1B):c.1675G>C (p.Ala559Pro)not specified [RCV004900861]uncertain significance15235760352357603Humanname
597785966CV3637874single nucleotide variantNM_001330585.2(CC2D1B):c.1738G>A (p.Val580Ile)not specified [RCV004900862]likely benign15235754052357540Humanname
597785968CV3637876single nucleotide variantNM_001330585.2(CC2D1B):c.1286G>A (p.Arg429Gln)not specified [RCV004900863]uncertain significance15235873052358730Humanname
597785972CV3637877single nucleotide variantNM_001330585.2(CC2D1B):c.2157T>A (p.Phe719Leu)not specified [RCV004900864]uncertain significance15235563852355638Humanname
597785976CV3637878single nucleotide variantNM_001330585.2(CC2D1B):c.1357T>C (p.Ser453Pro)not specified [RCV004900865]likely benign15235843552358435Humanname
597785984CV3637880single nucleotide variantNM_001330585.2(CC2D1B):c.1748C>A (p.Ser583Tyr)not specified [RCV004900867]uncertain significance15235753052357530Humanname
597785988CV3637881single nucleotide variantNM_001330585.2(CC2D1B):c.2360A>G (p.Lys787Arg)not specified [RCV004900868]uncertain significance15235467852354678Humanname
598176519CV3950498single nucleotide variantNM_001330585.2(CC2D1B):c.2086C>T (p.His696Tyr)not specified [RCV005310044]uncertain significance15235581352355813Humanname
598176545CV3950502single nucleotide variantNM_001330585.2(CC2D1B):c.2273G>A (p.Arg758Gln)not specified [RCV005310048]uncertain significance15235490652354906Humanname
598176550CV3950503single nucleotide variantNM_001330585.2(CC2D1B):c.1307T>C (p.Phe436Ser)not specified [RCV005310049]uncertain significance15235870952358709Humanname
15199033CV719007single nucleotide variantNM_001330585.2(CC2D1B):c.2020C>T (p.His674Tyr)not provided [RCV000890522]likely benign15235622052356220Humanname