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85 records found for search term Mepe
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
408378313CV3511970single nucleotide variantNM_020203.6(MEPE):c.108+1064C>GMEPE-related disorder [RCV004752212]likely benign48783974987839749Humanname , trait , alternate_id
405258070CV3208149single nucleotide variantNM_020203.6(MEPE):c.177A>G (p.Ser59=)MEPE-related disorder [RCV003941591]likely benign48784504587845045Humanname , trait , alternate_id
408384445CV3505358single nucleotide variantNM_020203.6(MEPE):c.214T>C (p.Leu72=)MEPE-related disorder [RCV004731818]likely benign48784508287845082Humanname , trait , alternate_id
329402940CV2462045single nucleotide variantNM_020203.6(MEPE):c.79A>C (p.Thr27Pro)not specified [RCV004266088]uncertain significance48783865687838656Humanname
401923552CV2820019single nucleotide variantNM_020203.6(MEPE):c.981A>G (p.Ala327=)not provided [RCV003435095]likely benign48784584987845849Humanname
405282404CV3190991single nucleotide variantNM_020203.6(MEPE):c.972G>A (p.Ala324=)MEPE-related disorder [RCV003921415]likely benign48784584087845840Humanname , trait , alternate_id
405294015CV3203389single nucleotide variantNM_020203.6(MEPE):c.876G>A (p.Glu292=)MEPE-related disorder [RCV003933936]likely benign48784574487845744Humanname , trait , alternate_id
405291667CV3205991single nucleotide variantNM_020203.6(MEPE):c.667C>T (p.Leu223=)MEPE-related disorder [RCV003964087]likely benign48784553587845535Humanname , trait , alternate_id
405294331CV3214804single nucleotide variantNM_020203.6(MEPE):c.717C>T (p.Ser239=)MEPE-related disorder [RCV003934220]likely benign48784558587845585Humanname , trait , alternate_id
405294360CV3214848single nucleotide variantNM_020203.6(MEPE):c.384T>C (p.Asp128=)MEPE-related disorder [RCV003934259]likely benign48784525287845252Humanname , trait , alternate_id
405271082CV3218883single nucleotide variantNM_020203.6(MEPE):c.681A>C (p.Ser227=)MEPE-related disorder [RCV003971629]benign48784554987845549Humanname , trait , alternate_id
155959063CV2275724single nucleotide variantNM_020203.6(MEPE):c.248G>A (p.Ser83Asn)not specified [RCV004137333]uncertain significance48784511687845116Humanname
156002137CV2296485single nucleotide variantNM_020203.6(MEPE):c.136G>T (p.Gly46Cys)not specified [RCV004148220]uncertain significance48784500487845004Humanname
156402452CV2361440single nucleotide variantNM_020203.6(MEPE):c.265T>C (p.Tyr89His)not specified [RCV004221083]uncertain significance48784513387845133Humanname
405257858CV3207921single nucleotide variantNM_020203.6(MEPE):c.122A>T (p.Asn41Ile)MEPE-related disorder [RCV003941393]benign48784499087844990Humanname , trait , alternate_id
405693979CV3282043single nucleotide variantNM_020203.6(MEPE):c.296A>T (p.Glu99Val)not specified [RCV004424195]uncertain significance48784516487845164Humanname
408377649CV3510290single nucleotide variantNM_020203.6(MEPE):c.216G>C (p.Leu72Phe)MEPE-related disorder [RCV004751136]uncertain significance48784508487845084Humanname , trait , alternate_id
597678339CV3556713single nucleotide variantNM_020203.6(MEPE):c.102G>T (p.Glu34Asp)not specified [RCV004830550]uncertain significance48783867987838679Humanname
597678349CV3556716single nucleotide variantNM_020203.6(MEPE):c.136G>A (p.Gly46Ser)not specified [RCV004830551]uncertain significance48784500487845004Humanname
598251775CV3985865single nucleotide variantNM_020203.6(MEPE):c.116A>G (p.Glu39Gly)not specified [RCV005366845]uncertain significance48784498487844984Humanname
8625862CV80986single nucleotide variantNM_020203.3(MEPE):c.211G>A (p.Asp71Asn)Malignant melanoma [RCV000061064]not provided48784507987845079Humanname
156329172CV2213779single nucleotide variantNM_020203.6(MEPE):c.919C>T (p.Pro307Ser)not specified [RCV004089842]uncertain significance48784578787845787Humanname
156184789CV2222541single nucleotide variantNM_020203.6(MEPE):c.479C>T (p.Ala160Val)not specified [RCV004099379]likely benign48784534787845347Humanname
156063269CV2316755single nucleotide variantNM_020203.6(MEPE):c.930A>C (p.Glu310Asp)not specified [RCV004171976]uncertain significance48784579887845798Humanname
155982476CV2337163single nucleotide variantNM_020203.6(MEPE):c.617G>T (p.Ser206Ile)not specified [RCV004192921]likely benign48784548587845485Humanname
156343379CV2353450single nucleotide variantNM_020203.6(MEPE):c.353C>T (p.Pro118Leu)MEPE-related disorder [RCV003918981]|not specified [RCV004205905]likely benign|uncertain significance48784522187845221Humanname , trait , alternate_id
156075338CV2377044single nucleotide variantNM_020203.6(MEPE):c.580A>G (p.Lys194Glu)not specified [RCV004229721]uncertain significance48784544887845448Humanname
155959074CV2390476single nucleotide variantNM_020203.6(MEPE):c.851G>T (p.Gly284Val)not specified [RCV004239017]uncertain significance48784571987845719Humanname
156007344CV2394348single nucleotide variantNM_020203.6(MEPE):c.971C>T (p.Ala324Val)MEPE-related disorder [RCV004750861]|not specified [RCV004238568]likely benign|uncertain significance48784583987845839Humanname , trait , alternate_id
401720473CV2673339single nucleotide variantNM_020203.6(MEPE):c.950T>C (p.Ile317Thr)not specified [RCV004288324]uncertain significance48784581887845818Humanname
401722018CV2680787single nucleotide variantNM_020203.6(MEPE):c.980C>A (p.Ala327Glu)not specified [RCV004293437]uncertain significance48784584887845848Humanname
401753742CV2716871single nucleotide variantNM_020203.6(MEPE):c.568C>T (p.His190Tyr)not specified [RCV004329992]uncertain significance48784543687845436Humanname
401737668CV2718168single nucleotide variantNM_020203.6(MEPE):c.658A>G (p.Ile220Val)not specified [RCV004315871]uncertain significance48784552687845526Humanname
401753040CV2725083single nucleotide variantNM_020203.6(MEPE):c.490C>G (p.Leu164Val)not specified [RCV004319833]uncertain significance48784535887845358Humanname
401768036CV2727360single nucleotide variantNM_020203.6(MEPE):c.718G>T (p.Gly240Cys)not specified [RCV004327461]uncertain significance48784558687845586Humanname
401896977CV2785463single nucleotide variantNM_020203.6(MEPE):c.812C>T (p.Ala271Val)not specified [RCV004362997]uncertain significance48784568087845680Humanname
401901650CV2797940single nucleotide variantNM_020203.6(MEPE):c.775G>A (p.Gly259Ser)MEPE-related disorder [RCV003393081]|not specified [RCV004364450]uncertain significance48784564387845643Humanname , trait , alternate_id
401934723CV2802786single nucleotide variantNM_020203.6(MEPE):c.365G>A (p.Gly122Glu)MEPE-related disorder [RCV003412149]uncertain significance48784523387845233Humanname , trait , alternate_id
405260180CV3190234single nucleotide variantNM_020203.6(MEPE):c.430G>A (p.Ala144Thr)MEPE-related disorder [RCV003894635]uncertain significance48784529887845298Humanname , trait , alternate_id
405283880CV3213450single nucleotide variantNM_020203.6(MEPE):c.616A>G (p.Ser206Gly)MEPE-related disorder [RCV003922033]benign48784548487845484Humanname , trait , alternate_id
405693984CV3282044single nucleotide variantNM_020203.6(MEPE):c.853T>C (p.Phe285Leu)not specified [RCV004424196]likely benign48784572187845721Humanname
405693996CV3282046single nucleotide variantNM_020203.6(MEPE):c.980C>T (p.Ala327Val)MEPE-related disorder [RCV004750960]|not specified [RCV004424198]likely benign|uncertain significance48784584887845848Humanname , trait , alternate_id
408377718CV3510960single nucleotide variantNM_020203.6(MEPE):c.698C>T (p.Pro233Leu)MEPE-related disorder [RCV004751173]|not specified [RCV004824077]uncertain significance48784556687845566Humanname , trait , alternate_id
597634846CV3556712single nucleotide variantNM_020203.6(MEPE):c.817G>A (p.Gly273Ser)not specified [RCV004824233]uncertain significance48784568587845685Humanname
597634858CV3556715single nucleotide variantNM_020203.6(MEPE):c.673C>T (p.His225Tyr)not specified [RCV004824235]uncertain significance48784554187845541Humanname
597634863CV3556717single nucleotide variantNM_020203.6(MEPE):c.364G>T (p.Gly122Trp)not specified [RCV004824236]uncertain significance48784523287845232Humanname
597634870CV3556718single nucleotide variantNM_020203.6(MEPE):c.304A>G (p.Ile102Val)not specified [RCV004824237]uncertain significance48784517287845172Humanname
597678357CV3556719single nucleotide variantNM_020203.6(MEPE):c.647T>C (p.Ile216Thr)not specified [RCV004830552]likely benign48784551587845515Humanname
597678366CV3556720single nucleotide variantNM_020203.6(MEPE):c.598G>C (p.Asp200His)not specified [RCV004830553]uncertain significance48784546687845466Humanname
598225812CV3985862single nucleotide variantNM_020203.6(MEPE):c.572C>T (p.Ser191Leu)not specified [RCV005380469]uncertain significance48784544087845440Humanname
598225820CV3985867single nucleotide variantNM_020203.6(MEPE):c.736G>A (p.Glu246Lys)not specified [RCV005380470]uncertain significance48784560487845604Humanname
13837777CV589070single nucleotide variantNM_020203.6(MEPE):c.988G>A (p.Val330Ile)not provided [RCV004716615]|not specified [RCV000734295]benign48784585687845856Humanname
152059176CV1670899single nucleotide variantNM_020203.6(MEPE):c.1179T>A (p.Ser393Arg)not provided [RCV002226418]not provided48784604787846047Humanname
156232863CV2196319single nucleotide variantNM_020203.6(MEPE):c.1555T>G (p.Ser519Ala)not specified [RCV004072497]uncertain significance48784642387846423Humanname
156332962CV2214524single nucleotide variantNM_020203.6(MEPE):c.1112A>G (p.Glu371Gly)not specified [RCV004088575]uncertain significance48784598087845980Humanname
155924218CV2280493single nucleotide variantNM_020203.6(MEPE):c.1454T>C (p.Met485Thr)not specified [RCV004142698]uncertain significance48784632287846322Humanname
156297777CV2310555single nucleotide variantNM_020203.6(MEPE):c.1036A>C (p.Asn346His)not specified [RCV004163573]uncertain significance48784590487845904Humanname
156070349CV2354163single nucleotide variantNM_020203.6(MEPE):c.1412A>G (p.Tyr471Cys)not specified [RCV004206597]uncertain significance48784628087846280Humanname
156130334CV2357998single nucleotide variantNM_020203.6(MEPE):c.1153G>A (p.Glu385Lys)not specified [RCV004209776]uncertain significance48784602187846021Humanname
329357070CV2457526single nucleotide variantNM_020203.6(MEPE):c.1018G>A (p.Asp340Asn)not specified [RCV004267335]uncertain significance48784588687845886Humanname
329399470CV2470112single nucleotide variantNM_020203.6(MEPE):c.1411T>G (p.Tyr471Asp)not specified [RCV004287368]uncertain significance48784627987846279Humanname
401766484CV2679710single nucleotide variantNM_020203.6(MEPE):c.1130C>T (p.Ala377Val)not specified [RCV004282180]likely benign48784599887845998Humanname
401869631CV2782431single nucleotide variantNM_020203.6(MEPE):c.1499G>T (p.Arg500Met)not specified [RCV004365162]uncertain significance48784636787846367Humanname
401894594CV2788081single nucleotide variantNM_020203.6(MEPE):c.1315C>G (p.Pro439Ala)not specified [RCV004352714]uncertain significance48784618387846183Humanname
401923415CV2803278single nucleotide variantNM_020203.6(MEPE):c.1456C>A (p.Pro486Thr)MEPE-related disorder [RCV003404424]uncertain significance48784632487846324Humanname , trait , alternate_id
405258405CV3203757single nucleotide variantNM_020203.6(MEPE):c.1393C>A (p.His465Asn)MEPE-related disorder [RCV003941937]benign48784626187846261Humanname , trait , alternate_id
405693960CV3282040single nucleotide variantNM_020203.6(MEPE):c.1076A>G (p.Asp359Gly)not specified [RCV004424192]uncertain significance48784594487845944Humanname
405693966CV3282041single nucleotide variantNM_020203.6(MEPE):c.1497C>A (p.Asn499Lys)not specified [RCV004424193]uncertain significance48784636587846365Humanname
405693974CV3282042single nucleotide variantNM_020203.6(MEPE):c.1534G>A (p.Glu512Lys)not specified [RCV004424194]uncertain significance48784640287846402Humanname
407502863CV3449916single nucleotide variantNM_020203.6(MEPE):c.1567G>A (p.Asp523Asn)not specified [RCV004645287]uncertain significance48784643587846435Humanname
407502866CV3449919single nucleotide variantNM_020203.6(MEPE):c.1322G>A (p.Arg441His)not specified [RCV004645288]likely benign48784619087846190Humanname
407502870CV3449920single nucleotide variantNM_020203.6(MEPE):c.1157G>A (p.Gly386Asp)not specified [RCV004645289]uncertain significance48784602587846025Humanname
597634853CV3556714single nucleotide variantNM_020203.6(MEPE):c.1234G>A (p.Asp412Asn)not specified [RCV004824234]uncertain significance48784610287846102Humanname
598251762CV3985863single nucleotide variantNM_020203.6(MEPE):c.1469G>C (p.Gly490Ala)not specified [RCV005366843]uncertain significance48784633787846337Humanname
598251770CV3985864single nucleotide variantNM_020203.6(MEPE):c.1117C>G (p.His373Asp)not specified [RCV005366844]uncertain significance48784598587845985Humanname
598251780CV3985866single nucleotide variantNM_020203.6(MEPE):c.1417C>A (p.Pro473Thr)not specified [RCV005366846]uncertain significance48784628587846285Humanname
15156947CV698671single nucleotide variantNM_020203.6(MEPE):c.1171G>A (p.Ala391Thr)MEPE-related disorder [RCV003960585]|not provided [RCV000946794]benign48784603987846039Humanname , trait , alternate_id
15156951CV698672single nucleotide variantNM_020203.6(MEPE):c.1185C>G (p.Asn395Lys)MEPE-related disorder [RCV003913214]|not provided [RCV000946795]benign48784605387846053Humanname , trait , alternate_id
15156957CV698673single nucleotide variantNM_020203.6(MEPE):c.1240T>G (p.Ser414Ala)MEPE-related disorder [RCV003960586]|not provided [RCV000946796]benign48784610887846108Humanname , trait , alternate_id
15156962CV698674single nucleotide variantNM_020203.6(MEPE):c.1346A>C (p.Asn449Thr)MEPE-related disorder [RCV003978151]|not provided [RCV000946797]benign48784621487846214Humanname , trait , alternate_id
15156967CV698675single nucleotide variantNM_020203.6(MEPE):c.1441C>T (p.Arg481Trp)MEPE-related disorder [RCV003960587]|not provided [RCV000946798]benign48784630987846309Humanname , trait , alternate_id
15156973CV698676single nucleotide variantNM_020203.6(MEPE):c.1461A>C (p.Gln487His)MEPE-related disorder [RCV003913215]|not provided [RCV000946799]benign48784632987846329Humanname , trait , alternate_id
408378916CV3517628microsatelliteNM_020203.6(MEPE):c.209_212del (p.Lys70fs)MEPE-related disorder [RCV004752501]uncertain significance48784506787845070Humanname , trait , alternate_id
11087731CV227828single nucleotide variantNC_000002.11:g.208494234T>Cbuprenorphine response - Dosage [RCV000211288]|fentanyl response - Dosage [RCV000211383]|meperidine response - Dosage [RCV000211200]|morphine response - Dosage [RCV000211287]|opioids response - Dosage [RCV000211411]|pentazocine response - Dosage [RCV000211227]drug response2207629510207629510Human2trait
11087731CV227828single nucleotide variantNC_000002.11:g.208494234T>Cbuprenorphine response - Dosage [RCV000211288]|fentanyl response - Dosage [RCV000211383]|meperidine response - Dosage [RCV000211200]|morphine response - Dosage [RCV000211287]|opioids response - Dosage [RCV000211411]|pentazocine response - Dosage [RCV000211227]drug response2207629510207629511Human2trait