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47 records found for search term Mrps30
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156090270CV2344636single nucleotide variantNM_016640.4(MRPS30):c.8C>T (p.Ala3Val)not specified [RCV004197405]uncertain significance54480897044808970Humanname
401865955CV2786210single nucleotide variantNM_016640.4(MRPS30):c.7G>C (p.Ala3Pro)not specified [RCV004360006]uncertain significance54480896944808969Humanname
155920922CV2212014single nucleotide variantNM_016640.4(MRPS30):c.14G>A (p.Arg5Lys)not specified [RCV004088927]uncertain significance54480897644808976Humanname
156099145CV2294614single nucleotide variantNM_016640.4(MRPS30):c.238C>A (p.Leu80Met)not specified [RCV004161870]uncertain significance54480920044809200Humanname
329393598CV2453459single nucleotide variantNM_016640.4(MRPS30):c.155C>T (p.Thr52Ile)not specified [RCV004267061]uncertain significance54480911744809117Humanname
401732667CV2685297single nucleotide variantNM_016640.4(MRPS30):c.190G>A (p.Glu64Lys)not specified [RCV004292297]uncertain significance54480915244809152Humanname
407475231CV3450442single nucleotide variantNM_016640.4(MRPS30):c.262T>G (p.Phe88Val)not specified [RCV004638251]uncertain significance54480922444809224Humanname
597634569CV3557436single nucleotide variantNM_016640.4(MRPS30):c.218C>G (p.Ala73Gly)not specified [RCV004830997]uncertain significance54480918044809180Humanname
597634579CV3557440single nucleotide variantNM_016640.4(MRPS30):c.202G>A (p.Ala68Thr)not specified [RCV004830999]uncertain significance54480916444809164Humanname
597634584CV3557441single nucleotide variantNM_016640.4(MRPS30):c.203C>A (p.Ala68Glu)not specified [RCV004831000]uncertain significance54480916544809165Humanname
597634596CV3557443single nucleotide variantNM_016640.4(MRPS30):c.223T>C (p.Ser75Pro)not specified [RCV004831002]uncertain significance54480918544809185Humanname
156072417CV2267487single nucleotide variantNM_016640.4(MRPS30):c.635G>T (p.Arg212Leu)not specified [RCV004135911]uncertain significance54481104244811042Humanname
156285210CV2289044single nucleotide variantNM_016640.4(MRPS30):c.376G>A (p.Glu126Lys)not specified [RCV004149990]uncertain significance54480933844809338Humanname
155973902CV2333250single nucleotide variantNM_016640.4(MRPS30):c.484C>G (p.Arg162Gly)not specified [RCV004196580]uncertain significance54480944644809446Humanname
329357170CV2431267single nucleotide variantNM_016640.4(MRPS30):c.742G>A (p.Ala248Thr)not specified [RCV004250601]uncertain significance54481114944811149Humanname
329394239CV2472397single nucleotide variantNM_016640.4(MRPS30):c.988G>T (p.Ala330Ser)not specified [RCV004285271]uncertain significance54481324044813240Humanname
401720977CV2702215single nucleotide variantNM_016640.4(MRPS30):c.787A>T (p.Thr263Ser)not specified [RCV004314560]uncertain significance54481195444811954Humanname
401724935CV2715034single nucleotide variantNM_016640.4(MRPS30):c.311G>A (p.Arg104His)not specified [RCV004322346]uncertain significance54480927344809273Humanname
401873844CV2772758single nucleotide variantNM_016640.4(MRPS30):c.720G>T (p.Gln240His)not specified [RCV004357559]uncertain significance54481112744811127Humanname
405787752CV3371580single nucleotide variantNM_016640.4(MRPS30):c.334A>G (p.Thr112Ala)not specified [RCV004505175]uncertain significance54480929644809296Humanname
405787867CV3371599single nucleotide variantNM_016640.4(MRPS30):c.898C>T (p.His300Tyr)not specified [RCV004505194]uncertain significance54481315044813150Humanname
405788304CV3371601single nucleotide variantNM_016640.4(MRPS30):c.985A>G (p.Ile329Val)not specified [RCV004505196]uncertain significance54481323744813237Humanname
407474799CV3450443single nucleotide variantNM_016640.4(MRPS30):c.707A>C (p.Lys236Thr)not specified [RCV004638252]uncertain significance54481111444811114Humanname
407474807CV3450445single nucleotide variantNM_016640.4(MRPS30):c.803C>G (p.Pro268Arg)not specified [RCV004638254]uncertain significance54481197044811970Humanname
407474812CV3450446single nucleotide variantNM_016640.4(MRPS30):c.304G>A (p.Ala102Thr)not specified [RCV004638255]uncertain significance54480926644809266Humanname
597634563CV3557435single nucleotide variantNM_016640.4(MRPS30):c.529C>G (p.Leu177Val)not specified [RCV004830996]uncertain significance54480949144809491Humanname
597638124CV3557437single nucleotide variantNM_016640.4(MRPS30):c.461A>G (p.His154Arg)not specified [RCV004824865]uncertain significance54480942344809423Humanname
597634574CV3557438single nucleotide variantNM_016640.4(MRPS30):c.430G>A (p.Ala144Thr)not specified [RCV004830998]uncertain significance54480939244809392Humanname
597634590CV3557442single nucleotide variantNM_016640.4(MRPS30):c.437C>T (p.Ala146Val)not specified [RCV004831001]uncertain significance54480939944809399Humanname
597638135CV3557444single nucleotide variantNM_016640.4(MRPS30):c.785C>T (p.Pro262Leu)not specified [RCV004824867]uncertain significance54481195244811952Humanname
598179325CV3993558single nucleotide variantNM_016640.4(MRPS30):c.328A>T (p.Thr110Ser)not specified [RCV005371911]uncertain significance54480929044809290Humanname
598213438CV3993559single nucleotide variantNM_016640.4(MRPS30):c.832T>C (p.Tyr278His)not specified [RCV005378349]uncertain significance54481199944811999Humanname
598213451CV3993561single nucleotide variantNM_016640.4(MRPS30):c.865G>A (p.Ala289Thr)not specified [RCV005378351]uncertain significance54481311744813117Humanname
598213458CV3993562single nucleotide variantNM_016640.4(MRPS30):c.709C>T (p.Pro237Ser)not specified [RCV005378352]uncertain significance54481111644811116Humanname
598179330CV3993563single nucleotide variantNM_016640.4(MRPS30):c.811C>A (p.Leu271Ile)not specified [RCV005371912]uncertain significance54481197844811978Humanname
13820736CV576115single nucleotide variantNM_016640.4(MRPS30):c.674G>A (p.Arg225Gln)not provided [RCV000709790]not provided54481108144811081Humanname
329372010CV2442985single nucleotide variantNM_016640.4(MRPS30):c.1057C>G (p.Arg353Gly)not specified [RCV004253578]uncertain significance54481493944814939Humanname
329401124CV2446159single nucleotide variantNM_016640.4(MRPS30):c.1249G>A (p.Val417Ile)not specified [RCV004264568]uncertain significance54481513144815131Humanname
329384828CV2454438single nucleotide variantNM_016640.4(MRPS30):c.1156A>C (p.Asn386His)not specified [RCV004267943]uncertain significance54481503844815038Humanname
401774229CV2727774single nucleotide variantNM_016640.4(MRPS30):c.1213A>G (p.Ile405Val)not specified [RCV004323804]uncertain significance54481509544815095Humanname
405788250CV3371544single nucleotide variantNM_016640.4(MRPS30):c.1034T>G (p.Phe345Cys)not specified [RCV004505139]uncertain significance54481491644814916Humanname
405788216CV3371551single nucleotide variantNM_016640.4(MRPS30):c.1186A>G (p.Thr396Ala)not specified [RCV004505146]uncertain significance54481506844815068Humanname
407474803CV3450444single nucleotide variantNM_016640.4(MRPS30):c.1235G>A (p.Gly412Asp)not specified [RCV004638253]uncertain significance54481511744815117Humanname
597638119CV3557434single nucleotide variantNM_016640.4(MRPS30):c.1060C>A (p.Pro354Thr)not specified [RCV004824864]uncertain significance54481494244814942Humanname
597638130CV3557439single nucleotide variantNM_016640.4(MRPS30):c.1096T>C (p.Tyr366His)not specified [RCV004824866]uncertain significance54481497844814978Humanname
598213446CV3993560single nucleotide variantNM_016640.4(MRPS30):c.1087G>C (p.Asp363His)not specified [RCV005378350]uncertain significance54481496944814969Humanname
401912655CV2827751microsatelliteNM_016640.4(MRPS30):c.372GCCCGA[4] (p.Pro135_Ala136insGluPro)not provided [RCV003427460]likely benign54480933144809332Humanname