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103 records found for search term Zp2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405292961CV3207115single nucleotide variantNM_001376232.1(ZP2):c.-9T>CZP2-related disorder [RCV003931525]benign162121155621211556Humanname , trait , alternate_id
155800833CV1860755single nucleotide variantNM_001376232.1(ZP2):c.151+1G>AOocyte maturation defect 6 [RCV002467398]likely pathogenic162121130621211306Human1name
405273388CV3207425single nucleotide variantNM_001376232.1(ZP2):c.152-6C>TZP2-related disorder [RCV003914671]likely benign162121019821210198Humanname , trait , alternate_id
405291943CV3207737single nucleotide variantNM_001376232.1(ZP2):c.1099+9C>AZP2-related disorder [RCV003929428]likely benign162120311621203116Humanname , trait , alternate_id
405289854CV3213970single nucleotide variantNM_001376232.1(ZP2):c.1100-9G>AZP2-related disorder [RCV003926822]likely benign162120230021202300Humanname , trait , alternate_id
405283093CV3218486duplicationNM_001376232.1(ZP2):c.2096-5dupZP2-related disorder [RCV003957278]likely benign162119762621197627Humanname , trait , alternate_id
596925416CV3542073single nucleotide variantNM_001376232.1(ZP2):c.2095+2T>COocyte maturation defect 6 [RCV004795789]uncertain significance162119776421197764Human1name
14395243CV610994single nucleotide variantNM_001376232.1(ZP2):c.1695-2A>GOocyte maturation defect 6 [RCV000758705]pathogenic162119988021199880Human1name
15152785CV731055single nucleotide variantNM_001376232.1(ZP2):c.2011+8C>Tnot provided [RCV000879877]benign162119877121198771Humanname
156227495CV2388253single nucleotide variantNM_001376232.1(ZP2):c.5C>T (p.Ala2Val)not specified [RCV004234711]uncertain significance162121154321211543Humanname
405675684CV3354949single nucleotide variantNM_001376232.1(ZP2):c.22G>A (p.Gly8Ser)not specified [RCV004487576]uncertain significance162121152621211526Humanname
407487455CV3420949single nucleotide variantNM_001376232.1(ZP2):c.20G>A (p.Gly7Glu)not specified [RCV004603771]uncertain significance162121152821211528Humanname
598200453CV3942094single nucleotide variantNM_001376232.1(ZP2):c.13C>G (p.Gln5Glu)not specified [RCV005314061]uncertain significance162121153521211535Humanname
156057141CV2371213single nucleotide variantNM_001376232.1(ZP2):c.74C>G (p.Ser25Trp)not provided [RCV003886610]|not specified [RCV004220951]uncertain significance162121138421211384Humanname
401934397CV2807721single nucleotide variantNM_001376232.1(ZP2):c.720G>A (p.Val240=)not provided [RCV003411288]likely benign162120437821204378Humanname
405262671CV3196663single nucleotide variantNM_001376232.1(ZP2):c.519C>T (p.Asp173=)ZP2-related disorder [RCV003967351]benign162120574021205740Humanname , trait , alternate_id
405288096CV3218082single nucleotide variantNM_001376232.1(ZP2):c.747T>C (p.Pro249=)ZP2-related disorder [RCV003982206]benign162120435121204351Humanname , trait , alternate_id
405675713CV3354954single nucleotide variantNM_001376232.1(ZP2):c.91G>A (p.Ala31Thr)not specified [RCV004487581]likely benign162121136721211367Humanname
405675721CV3354955single nucleotide variantNM_001376232.1(ZP2):c.92C>T (p.Ala31Val)not specified [RCV004487582]uncertain significance162121136621211366Humanname
407487474CV3420953single nucleotide variantNM_001376232.1(ZP2):c.50A>G (p.Asn17Ser)not specified [RCV004603775]uncertain significance162121149821211498Humanname
15163138CV726501single nucleotide variantNM_001376232.1(ZP2):c.495A>C (p.Pro165=)ZP2-related disorder [RCV003920558]|not provided [RCV000881903]benign162120576421205764Human1name , trait , alternate_id
8635710CV90933single nucleotide variantNM_003460.2(ZP2):c.1955T>G (p.Met652Arg)Malignant melanoma [RCV000071031]not provided162119883521198835Humanname
8635711CV90934single nucleotide variantNM_003460.2(ZP2):c.1318G>A (p.Glu440Lys)Malignant melanoma [RCV000071032]not provided162120199321201993Humanname
126909844CV1038406single nucleotide variantNM_001376232.1(ZP2):c.278A>G (p.Asp93Gly)not provided [RCV001354125]uncertain significance162120968321209683Humanname
156258028CV2322109single nucleotide variantNM_001376232.1(ZP2):c.221A>G (p.His74Arg)not specified [RCV004173850]uncertain significance162121012321210123Humanname
329383018CV2441767single nucleotide variantNM_001376232.1(ZP2):c.272T>A (p.Ile91Asn)not specified [RCV004261979]uncertain significance162120968921209689Humanname
329352202CV2476631single nucleotide variantNM_001376232.1(ZP2):c.1140C>T (p.Val380=)not provided [RCV003222863]likely benign162120225121202251Humanname
405284197CV3213637single nucleotide variantNM_001376232.1(ZP2):c.1815C>T (p.His605=)ZP2-related disorder [RCV003922207]likely benign162119975821199758Humanname , trait , alternate_id
405287706CV3217917single nucleotide variantNM_001376232.1(ZP2):c.107G>T (p.Gly36Val)ZP2-related disorder [RCV003982040]benign162121135121211351Humanname , trait , alternate_id
598129037CV3886840single nucleotide variantNM_001376232.1(ZP2):c.1284T>C (p.Tyr428=)not provided [RCV005244500]likely benign162120210721202107Humanname
598129671CV3887090single nucleotide variantNM_001376232.1(ZP2):c.1546C>T (p.Leu516=)not provided [RCV005245150]likely benign162120151721201517Humanname
598276333CV3942098single nucleotide variantNM_001376232.1(ZP2):c.255G>A (p.Met85Ile)not specified [RCV005305467]likely benign162120970621209706Humanname
15200643CV703560single nucleotide variantNM_001376232.1(ZP2):c.1536C>T (p.Asn512=)not provided [RCV000957389]benign|likely benign162120152721201527Humanname
15200647CV703561single nucleotide variantNM_001376232.1(ZP2):c.222T>A (p.His74Gln)not provided [RCV000957390]likely benign162121012221210122Humanname
156264363CV2198566single nucleotide variantNM_001376232.1(ZP2):c.970A>G (p.Lys324Glu)not specified [RCV004075591]uncertain significance162120403221204032Humanname
155970636CV2335602single nucleotide variantNM_001376232.1(ZP2):c.715A>G (p.Met239Val)not specified [RCV004193807]uncertain significance162120438321204383Humanname
156388274CV2380254single nucleotide variantNM_001376232.1(ZP2):c.425A>G (p.Gln142Arg)not specified [RCV004224612]uncertain significance162120689621206896Humanname
156097584CV2392711single nucleotide variantNM_001376232.1(ZP2):c.580G>A (p.Ala194Thr)not specified [RCV004247086]uncertain significance162120553321205533Humanname
329400819CV2448936single nucleotide variantNM_001376232.1(ZP2):c.557T>C (p.Ile186Thr)not specified [RCV004264022]uncertain significance162120555621205556Humanname
329396252CV2459461single nucleotide variantNM_001376232.1(ZP2):c.688T>C (p.Tyr230His)not specified [RCV004275142]uncertain significance162120542521205425Humanname
329392009CV2470284single nucleotide variantNM_001376232.1(ZP2):c.538G>T (p.Val180Phe)not specified [RCV004279688]uncertain significance162120557521205575Humanname
401780264CV2673943single nucleotide variantNM_001376232.1(ZP2):c.547G>C (p.Gly183Arg)not specified [RCV004293315]uncertain significance162120556621205566Humanname
401740752CV2680470single nucleotide variantNM_001376232.1(ZP2):c.656A>G (p.His219Arg)not specified [RCV004291114]uncertain significance162120545721205457Humanname
405675689CV3354950single nucleotide variantNM_001376232.1(ZP2):c.337G>A (p.Gly113Arg)not specified [RCV004487577]uncertain significance162120698421206984Humanname
405675703CV3354952single nucleotide variantNM_001376232.1(ZP2):c.397A>G (p.Met133Val)not specified [RCV004487579]uncertain significance162120692421206924Humanname
405675708CV3354953single nucleotide variantNM_001376232.1(ZP2):c.907G>A (p.Gly303Arg)not specified [RCV004487580]uncertain significance162120409521204095Humanname
407487461CV3420950single nucleotide variantNM_001376232.1(ZP2):c.743C>T (p.Ser248Phe)not specified [RCV004603772]uncertain significance162120435521204355Humanname
407487483CV3420955single nucleotide variantNM_001376232.1(ZP2):c.548G>A (p.Gly183Glu)not specified [RCV004603777]uncertain significance162120556521205565Humanname
597747852CV3646103single nucleotide variantNM_001376232.1(ZP2):c.692T>A (p.Val231Glu)not specified [RCV004892023]uncertain significance162120542121205421Humanname
597747860CV3646104single nucleotide variantNM_001376232.1(ZP2):c.547G>A (p.Gly183Arg)not specified [RCV004892024]uncertain significance162120556621205566Humanname
597747869CV3646106single nucleotide variantNM_001376232.1(ZP2):c.754A>G (p.Lys252Glu)not specified [RCV004892026]uncertain significance162120434421204344Humanname
597747879CV3646108single nucleotide variantNM_001376232.1(ZP2):c.745C>T (p.Pro249Ser)not specified [RCV004892028]uncertain significance162120435321204353Humanname
597747895CV3646111single nucleotide variantNM_001376232.1(ZP2):c.342C>G (p.His114Gln)not specified [RCV004892031]uncertain significance162120697921206979Humanname
598200446CV3942093single nucleotide variantNM_001376232.1(ZP2):c.668A>G (p.Asn223Ser)not specified [RCV005314060]uncertain significance162120544521205445Humanname
598200475CV3942099single nucleotide variantNM_001376232.1(ZP2):c.488C>T (p.Ser163Phe)not specified [RCV005314064]uncertain significance162120577121205771Humanname
598276334CV3942102single nucleotide variantNM_001376232.1(ZP2):c.900T>G (p.His300Gln)not specified [RCV005305468]uncertain significance162120410221204102Humanname
15186687CV726502single nucleotide variantNM_001376232.1(ZP2):c.460A>G (p.Ile154Val)ZP2-related disorder [RCV003920670]|not provided [RCV000887043]benign162120686121206861Human1name , trait , alternate_id
155978859CV2215106single nucleotide variantNM_001376232.1(ZP2):c.1141G>A (p.Glu381Lys)not specified [RCV004084868]uncertain significance162120225021202250Humanname
156124286CV2227328single nucleotide variantNM_001376232.1(ZP2):c.1862A>C (p.Asn621Thr)not specified [RCV004091867]uncertain significance162119963521199635Humanname
156335906CV2228457single nucleotide variantNM_001376232.1(ZP2):c.2102T>C (p.Met701Thr)not specified [RCV004098426]uncertain significance162119761621197616Humanname
156178624CV2229390single nucleotide variantNM_001376232.1(ZP2):c.1123G>A (p.Asp375Asn)not specified [RCV004101170]uncertain significance162120226821202268Humanname
156236727CV2235598single nucleotide variantNM_001376232.1(ZP2):c.1741G>A (p.Gly581Ser)not specified [RCV004111753]uncertain significance162119983221199832Humanname
156369232CV2263295single nucleotide variantNM_001376232.1(ZP2):c.1475C>T (p.Pro492Leu)not specified [RCV004133573]uncertain significance162120173521201735Humanname
156275424CV2290610single nucleotide variantNM_001376232.1(ZP2):c.2000C>T (p.Ser667Phe)not specified [RCV004149152]uncertain significance162119879021198790Humanname
156004730CV2296014single nucleotide variantNM_001376232.1(ZP2):c.1487T>G (p.Ile496Ser)not specified [RCV004151897]uncertain significance162120172321201723Humanname
156201667CV2313161single nucleotide variantNM_001376232.1(ZP2):c.1814A>C (p.His605Pro)not specified [RCV004161421]uncertain significance162119975921199759Humanname
155901433CV2345805single nucleotide variantNM_001376232.1(ZP2):c.1246C>T (p.Arg416Trp)not provided [RCV004809948]|not specified [RCV004205729]likely benign|uncertain significance162120214521202145Humanname
155901558CV2345829single nucleotide variantNM_001376232.1(ZP2):c.1658C>T (p.Pro553Leu)not specified [RCV004198875]uncertain significance162120140521201405Humanname
156123591CV2350037single nucleotide variantNM_001376232.1(ZP2):c.1306G>A (p.Val436Ile)not specified [RCV004199963]likely benign162120200521202005Humanname
156277773CV2352096single nucleotide variantNM_001376232.1(ZP2):c.1816G>A (p.Val606Met)not specified [RCV004191188]uncertain significance162119975721199757Humanname
156053788CV2361101single nucleotide variantNM_001376232.1(ZP2):c.1247G>A (p.Arg416Gln)not specified [RCV004216295]uncertain significance162120214421202144Humanname
155938988CV2365128single nucleotide variantNM_001376232.1(ZP2):c.1291G>A (p.Glu431Lys)not specified [RCV004224282]likely benign162120202021202020Humanname
155969024CV2391529single nucleotide variantNM_001376232.1(ZP2):c.2228C>T (p.Ser743Leu)not specified [RCV004239914]likely benign162119749021197490Humanname
329367708CV2457004single nucleotide variantNM_001376232.1(ZP2):c.1780G>C (p.Asp594His)not specified [RCV004270934]uncertain significance162119979321199793Humanname
329378601CV2463702single nucleotide variantNM_001376232.1(ZP2):c.2077G>A (p.Glu693Lys)not specified [RCV004279276]uncertain significance162119778421197784Humanname
401725849CV2687306single nucleotide variantNM_001376232.1(ZP2):c.1666T>A (p.Phe556Ile)not specified [RCV004298240]uncertain significance162120139721201397Humanname
401725491CV2735892single nucleotide variantNM_001376232.1(ZP2):c.1090G>A (p.Val364Ile)not provided [RCV003312335]|not specified [RCV004604933]uncertain significance162120313421203134Humanname
405675656CV3354944single nucleotide variantNM_001376232.1(ZP2):c.1103C>T (p.Thr368Ile)not specified [RCV004487571]uncertain significance162120228821202288Humanname
405675662CV3354945single nucleotide variantNM_001376232.1(ZP2):c.1999T>G (p.Ser667Ala)not specified [RCV004487572]uncertain significance162119879121198791Humanname
405675668CV3354946single nucleotide variantNM_001376232.1(ZP2):c.2000C>A (p.Ser667Tyr)not specified [RCV004487573]uncertain significance162119879021198790Humanname
405675672CV3354947single nucleotide variantNM_001376232.1(ZP2):c.2146G>A (p.Ala716Thr)not specified [RCV004487574]likely benign162119757221197572Humanname
405675679CV3354948single nucleotide variantNM_001376232.1(ZP2):c.2180T>C (p.Val727Ala)not specified [RCV004487575]uncertain significance162119753821197538Humanname
407499656CV3420947single nucleotide variantNM_001376232.1(ZP2):c.1687G>A (p.Val563Met)not specified [RCV004606929]uncertain significance162120137621201376Humanname
407487464CV3420951single nucleotide variantNM_001376232.1(ZP2):c.1895T>G (p.Val632Gly)not specified [RCV004603773]uncertain significance162119960221199602Humanname
407487469CV3420952single nucleotide variantNM_001376232.1(ZP2):c.1070A>G (p.Glu357Gly)not specified [RCV004603774]uncertain significance162120315421203154Humanname
407487478CV3420954single nucleotide variantNM_001376232.1(ZP2):c.1364G>C (p.Arg455Thr)not specified [RCV004603776]uncertain significance162120194721201947Humanname
596927448CV3541088single nucleotide variantNM_001376232.1(ZP2):c.2092C>T (p.Arg698Ter)Oocyte maturation defect 6 [RCV004796958]uncertain significance162119776921197769Human1name
596947065CV3547129single nucleotide variantNM_001376232.1(ZP2):c.1342T>A (p.Phe448Ile)not provided [RCV004810937]likely benign162120196921201969Humanname
597747842CV3646101single nucleotide variantNM_001376232.1(ZP2):c.1958C>G (p.Thr653Arg)not specified [RCV004892021]uncertain significance162119883221198832Humanname
597747847CV3646102single nucleotide variantNM_001376232.1(ZP2):c.1093T>A (p.Ser365Thr)not specified [RCV004892022]uncertain significance162120313121203131Humanname
597747864CV3646105single nucleotide variantNM_001376232.1(ZP2):c.2010A>C (p.Arg670Ser)not specified [RCV004892025]uncertain significance162119878021198780Humanname
597747874CV3646107single nucleotide variantNM_001376232.1(ZP2):c.2068G>C (p.Glu690Gln)not specified [RCV004892027]uncertain significance162119779321197793Humanname
597747886CV3646109single nucleotide variantNM_001376232.1(ZP2):c.1224G>C (p.Glu408Asp)not specified [RCV004892029]uncertain significance162120216721202167Humanname
597747890CV3646110single nucleotide variantNM_001376232.1(ZP2):c.1750G>A (p.Val584Met)not specified [RCV004892030]uncertain significance162119982321199823Humanname
598128983CV3886786single nucleotide variantNM_001376232.1(ZP2):c.1097T>C (p.Ile366Thr)not provided [RCV005244446]uncertain significance162120312721203127Humanname
598276332CV3942095single nucleotide variantNM_001376232.1(ZP2):c.1445C>T (p.Thr482Ile)not specified [RCV005305466]uncertain significance162120176521201765Humanname
598200460CV3942096single nucleotide variantNM_001376232.1(ZP2):c.1297G>A (p.Asp433Asn)not specified [RCV005314062]uncertain significance162120201421202014Humanname
598200467CV3942097single nucleotide variantNM_001376232.1(ZP2):c.1277C>T (p.Thr426Met)not specified [RCV005314063]uncertain significance162120211421202114Humanname
598200481CV3942100single nucleotide variantNM_001376232.1(ZP2):c.1501C>A (p.Pro501Thr)not specified [RCV005314065]uncertain significance162120170921201709Humanname
598200491CV3942103single nucleotide variantNM_001376232.1(ZP2):c.1400A>G (p.Tyr467Cys)not specified [RCV005314067]uncertain significance162120181021201810Humanname
14981551CV676994single nucleotide variantNM_001376232.1(ZP2):c.1115G>C (p.Cys372Ser)Oocyte maturation defect 6 [RCV000850116]pathogenic162120227621202276Human1name
598190403CV4008831microsatelliteNM_001376232.1(ZP2):c.860_861del (p.Val287fs)Oocyte maturation defect 6 [RCV005396330]pathogenic162120414121204142Humanname
14395244CV610995duplicationNM_001376232.1(ZP2):c.1691_1694dup (p.Cys566fs)Oocyte maturation defect 6 [RCV000758706]pathogenic162120136821201369Human1name