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58 records found for search term Samm50
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150441503CV1233553single nucleotide variantNM_015380.5(SAMM50):c.777+6G>Anot provided [RCV001645241]benign224397618943976189Humanname
15163650CV778654single nucleotide variantNM_015380.5(SAMM50):c.430-10C>Tnot provided [RCV000948138]benign224397286143972861Humanname
405722808CV3320487single nucleotide variantNM_015380.5(SAMM50):c.19C>T (p.Arg7Trp)not specified [RCV004450048]uncertain significance224395559643955596Humanname
597789579CV3604940single nucleotide variantNM_015380.5(SAMM50):c.20G>A (p.Arg7Gln)not specified [RCV004855793]uncertain significance224395559743955597Humanname
15196788CV729241single nucleotide variantNM_015380.5(SAMM50):c.102A>G (p.Glu34=)not provided [RCV000889869]benign224396336643963366Humanname
150478491CV1271067single nucleotide variantNM_015380.5(SAMM50):c.411A>G (p.Gly137=)not provided [RCV001696503]benign224397232443972324Humanname
401773654CV2727591single nucleotide variantNM_015380.5(SAMM50):c.37C>G (p.Pro13Ala)not specified [RCV004329777]uncertain significance224396330143963301Humanname
405722859CV3320493single nucleotide variantNM_015380.5(SAMM50):c.71A>G (p.Glu24Gly)not specified [RCV004450054]uncertain significance224396333543963335Humanname
15203149CV705976single nucleotide variantNM_015380.5(SAMM50):c.621G>A (p.Thr207=)not provided [RCV000958248]benign224397329643973296Humanname
15108990CV729243single nucleotide variantNM_015380.5(SAMM50):c.918G>A (p.Lys306=)not provided [RCV000893778]benign224397794043977940Humanname
8628703CV83847single nucleotide variantNM_015380.4(SAMM50):c.975C>T (p.Pro325=)Malignant melanoma [RCV000063928]not provided224398142943981429Humanname
156361059CV2269161single nucleotide variantNM_015380.5(SAMM50):c.104C>T (p.Ala35Val)not specified [RCV004130328]uncertain significance224396336843963368Humanname
156270988CV2286257single nucleotide variantNM_015380.5(SAMM50):c.122A>C (p.Glu41Ala)not specified [RCV004146216]uncertain significance224396338643963386Humanname
405722818CV3320488single nucleotide variantNM_015380.5(SAMM50):c.241C>T (p.Arg81Trp)not specified [RCV004450049]uncertain significance224396873743968737Humanname
597789582CV3604941single nucleotide variantNM_015380.5(SAMM50):c.199A>G (p.Ile67Val)not specified [RCV004855794]uncertain significance224396451843964518Humanname
15186126CV729242single nucleotide variantNM_015380.5(SAMM50):c.136G>A (p.Val46Ile)not provided [RCV000886890]likely benign224396445543964455Humanname
15196792CV729244single nucleotide variantNM_015380.5(SAMM50):c.1194C>T (p.Asn398=)not provided [RCV000889870]benign224398922943989229Humanname
156040213CV2332790single nucleotide variantNM_015380.5(SAMM50):c.340A>G (p.Asn114Asp)not specified [RCV004189459]uncertain significance224397225343972253Humanname
155918311CV2332978single nucleotide variantNM_015380.5(SAMM50):c.582A>T (p.Lys194Asn)not specified [RCV004194279]uncertain significance224397325743973257Humanname
156165367CV2348590single nucleotide variantNM_015380.5(SAMM50):c.658T>G (p.Trp220Gly)not specified [RCV004195819]uncertain significance224397606443976064Humanname
156063576CV2349641single nucleotide variantNM_015380.5(SAMM50):c.403A>G (p.Met135Val)not specified [RCV004204061]uncertain significance224397231643972316Humanname
329379395CV2443386single nucleotide variantNM_015380.5(SAMM50):c.544G>A (p.Gly182Arg)not specified [RCV004262230]uncertain significance224397298543972985Humanname
401778459CV2709145single nucleotide variantNM_015380.5(SAMM50):c.613C>T (p.Arg205Trp)not specified [RCV004316334]uncertain significance224397328843973288Humanname
401872354CV2769629single nucleotide variantNM_015380.5(SAMM50):c.614G>A (p.Arg205Gln)not specified [RCV004351272]uncertain significance224397328943973289Humanname
405722825CV3320489single nucleotide variantNM_015380.5(SAMM50):c.352G>A (p.Val118Ile)not specified [RCV004450050]uncertain significance224397226543972265Humanname
405722832CV3320490single nucleotide variantNM_015380.5(SAMM50):c.464G>A (p.Arg155His)not specified [RCV004450051]uncertain significance224397290543972905Humanname
405722843CV3320491single nucleotide variantNM_015380.5(SAMM50):c.538C>T (p.Arg180Trp)not specified [RCV004450052]uncertain significance224397297943972979Humanname
405722851CV3320492single nucleotide variantNM_015380.5(SAMM50):c.664A>G (p.Thr222Ala)not specified [RCV004450053]uncertain significance224397607043976070Humanname
405722868CV3320494single nucleotide variantNM_015380.5(SAMM50):c.776C>T (p.Ser259Leu)not specified [RCV004450055]uncertain significance224397618243976182Humanname
405722876CV3320495single nucleotide variantNM_015380.5(SAMM50):c.853C>A (p.Leu285Met)not specified [RCV004450056]uncertain significance224397787543977875Humanname
405722882CV3320496single nucleotide variantNM_015380.5(SAMM50):c.989C>T (p.Pro330Leu)not specified [RCV004450057]uncertain significance224398144343981443Humanname
407469297CV3483601single nucleotide variantNM_015380.5(SAMM50):c.703C>G (p.Leu235Val)not specified [RCV004661430]uncertain significance224397610943976109Humanname
597789590CV3604943single nucleotide variantNM_015380.5(SAMM50):c.797C>G (p.Ser266Cys)not specified [RCV004855796]uncertain significance224397676943976769Humanname
597789597CV3604945single nucleotide variantNM_015380.5(SAMM50):c.835C>G (p.Leu279Val)not specified [RCV004855798]uncertain significance224397680743976807Humanname
597789604CV3604947single nucleotide variantNM_015380.5(SAMM50):c.942T>A (p.Phe314Leu)not specified [RCV004855800]uncertain significance224398139643981396Humanname
598223043CV3903725single nucleotide variantNM_015380.5(SAMM50):c.865A>C (p.Thr289Pro)not specified [RCV005272987]uncertain significance224397788743977887Humanname
598223049CV3903726single nucleotide variantNM_015380.5(SAMM50):c.722C>T (p.Thr241Met)not specified [RCV005272988]uncertain significance224397612843976128Humanname
598223055CV3903727single nucleotide variantNM_015380.5(SAMM50):c.892G>C (p.Glu298Gln)not specified [RCV005272989]uncertain significance224397791443977914Humanname
598223061CV3903728single nucleotide variantNM_015380.5(SAMM50):c.751G>A (p.Gly251Arg)not specified [RCV005272990]uncertain significance224397615743976157Humanname
598223079CV3903731single nucleotide variantNM_015380.5(SAMM50):c.955T>C (p.Trp319Arg)not specified [RCV005272993]uncertain significance224398140943981409Humanname
598223086CV3903732single nucleotide variantNM_015380.5(SAMM50):c.568G>T (p.Val190Leu)not specified [RCV005272994]uncertain significance224397324343973243Humanname
156119826CV2275859single nucleotide variantNM_015380.5(SAMM50):c.1182C>G (p.His394Gln)not specified [RCV004139520]uncertain significance224398921743989217Humanname
156199466CV2312992single nucleotide variantNM_015380.5(SAMM50):c.1291G>T (p.Val431Phe)not specified [RCV004159493]uncertain significance224399033343990333Humanname
329370296CV2435538single nucleotide variantNM_015380.5(SAMM50):c.1047C>G (p.Ser349Arg)not specified [RCV004253176]uncertain significance224398397243983972Humanname
329387229CV2463466single nucleotide variantNM_015380.5(SAMM50):c.1229G>T (p.Gly410Val)not specified [RCV004277295]uncertain significance224399027143990271Humanname
401732149CV2690317single nucleotide variantNM_015380.5(SAMM50):c.1277A>G (p.Tyr426Cys)not specified [RCV004302313]uncertain significance224399031943990319Humanname
401779152CV2712952single nucleotide variantNM_015380.5(SAMM50):c.1270T>C (p.Trp424Arg)not specified [RCV004314662]uncertain significance224399031243990312Humanname
401779716CV2714711single nucleotide variantNM_015380.5(SAMM50):c.1315C>T (p.Arg439Trp)not specified [RCV004320283]uncertain significance224399035743990357Humanname
405722789CV3320484single nucleotide variantNM_015380.5(SAMM50):c.1129C>G (p.Pro377Ala)not specified [RCV004450045]uncertain significance224398916443989164Humanname
405722795CV3320485single nucleotide variantNM_015380.5(SAMM50):c.1142G>A (p.Arg381Gln)not specified [RCV004450046]uncertain significance224398917743989177Humanname
405722801CV3320486single nucleotide variantNM_015380.5(SAMM50):c.1267C>T (p.Arg423Cys)not specified [RCV004450047]uncertain significance224399030943990309Humanname
407514228CV3483600single nucleotide variantNM_015380.5(SAMM50):c.1108G>A (p.Gly370Ser)not specified [RCV004674464]uncertain significance224398914343989143Humanname
597789586CV3604942single nucleotide variantNM_015380.5(SAMM50):c.1336G>A (p.Val446Ile)not specified [RCV004855795]likely benign224399037843990378Humanname
597789593CV3604944single nucleotide variantNM_015380.5(SAMM50):c.1111G>A (p.Gly371Ser)not specified [RCV004855797]uncertain significance224398914643989146Humanname
597789601CV3604946single nucleotide variantNM_015380.5(SAMM50):c.1050G>A (p.Met350Ile)not specified [RCV004855799]uncertain significance224398397543983975Humanname
597789608CV3604948single nucleotide variantNM_015380.5(SAMM50):c.1228G>A (p.Gly410Ser)not specified [RCV004855801]uncertain significance224399027043990270Humanname
598223066CV3903729single nucleotide variantNM_015380.5(SAMM50):c.1342A>G (p.Met448Val)not specified [RCV005272991]uncertain significance224399038443990384Humanname
598223072CV3903730single nucleotide variantNM_015380.5(SAMM50):c.1013A>G (p.Tyr338Cys)not specified [RCV005272992]uncertain significance224398393843983938Humanname