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Variants search result for Homo sapiens
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57 records found for search term Smpdl3b
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
617153006CV4020776single nucleotide variantNM_014474.4(SMPDL3B):c.374-7T>Cnot provided [RCV005428529]likely benign12795320827953208Humanname
405713042CV3329877single nucleotide variantNM_014474.4(SMPDL3B):c.13G>A (p.Ala5Thr)not specified [RCV004462078]uncertain significance12793519627935196Humanname
156306076CV2335086single nucleotide variantNM_014474.4(SMPDL3B):c.79G>A (p.Ala27Thr)not specified [RCV004184623]likely benign12794524927945249Humanname
401737957CV2676079single nucleotide variantNM_014474.4(SMPDL3B):c.52G>T (p.Ala18Ser)not specified [RCV004284306]uncertain significance12793523527935235Humanname
405713067CV3329881single nucleotide variantNM_014474.4(SMPDL3B):c.50G>C (p.Arg17Thr)not specified [RCV004462082]uncertain significance12793523327935233Humanname
597744161CV3597278single nucleotide variantNM_014474.4(SMPDL3B):c.76A>G (p.Ile26Val)not specified [RCV004865408]uncertain significance12794524627945246Humanname
598238231CV3915208single nucleotide variantNM_014474.4(SMPDL3B):c.37T>A (p.Trp13Arg)not specified [RCV005275799]uncertain significance12793522027935220Humanname
15162122CV732384single nucleotide variantNM_014474.4(SMPDL3B):c.624G>A (p.Ala208=)not provided [RCV000903488]benign12795446027954460Humanname
156063213CV2272340single nucleotide variantNM_014474.4(SMPDL3B):c.211A>G (p.Ile71Val)not specified [RCV004131484]uncertain significance12794538127945381Humanname
156052182CV2329004single nucleotide variantNM_014474.4(SMPDL3B):c.136C>T (p.Pro46Ser)not specified [RCV004180293]uncertain significance12794530627945306Humanname
155915349CV2339113single nucleotide variantNM_014474.4(SMPDL3B):c.100G>A (p.Asp34Asn)not specified [RCV004187155]likely benign12794527027945270Humanname
401935568CV2812562single nucleotide variantNM_014474.4(SMPDL3B):c.1059G>A (p.Pro353=)not provided [RCV003413001]likely benign12795852927958529Humanname
598170427CV3915213single nucleotide variantNM_014474.4(SMPDL3B):c.175T>C (p.Trp59Arg)not specified [RCV005284596]uncertain significance12794534527945345Humanname
156318641CV2200360single nucleotide variantNM_014474.4(SMPDL3B):c.967C>T (p.Arg323Trp)not specified [RCV004076687]uncertain significance12795604427956044Humanname
156398265CV2204499single nucleotide variantNM_014474.4(SMPDL3B):c.954C>A (p.Asn318Lys)not specified [RCV004079298]uncertain significance12795603127956031Humanname
156375827CV2210323single nucleotide variantNM_014474.4(SMPDL3B):c.440G>A (p.Ser147Asn)not specified [RCV004089480]uncertain significance12795328127953281Humanname
156115257CV2221414single nucleotide variantNM_014474.4(SMPDL3B):c.298G>C (p.Asp100His)not specified [RCV004096708]uncertain significance12794908727949087Humanname
156290512CV2226190single nucleotide variantNM_014474.4(SMPDL3B):c.461T>G (p.Ile154Arg)not specified [RCV004105589]uncertain significance12795330227953302Humanname
156049688CV2315871single nucleotide variantNM_014474.4(SMPDL3B):c.581C>T (p.Thr194Ile)not specified [RCV004171647]uncertain significance12795441727954417Humanname
156363325CV2329820single nucleotide variantNM_014474.4(SMPDL3B):c.767A>T (p.Asn256Ile)not specified [RCV004183282]uncertain significance12795576027955760Humanname
155922214CV2340585single nucleotide variantNM_014474.4(SMPDL3B):c.850C>T (p.Arg284Trp)not specified [RCV004197293]uncertain significance12795584327955843Humanname
156242377CV2346995single nucleotide variantNM_014474.4(SMPDL3B):c.976G>A (p.Glu326Lys)not specified [RCV004202438]likely benign12795605327956053Humanname
156342380CV2368540single nucleotide variantNM_014474.4(SMPDL3B):c.385T>C (p.Tyr129His)not specified [RCV004221331]uncertain significance12795322627953226Humanname
156140439CV2383616single nucleotide variantNM_014474.4(SMPDL3B):c.716C>T (p.Pro239Leu)not specified [RCV004229507]uncertain significance12795570927955709Humanname
401731007CV2686834single nucleotide variantNM_014474.4(SMPDL3B):c.478C>A (p.Pro160Thr)not specified [RCV004302014]uncertain significance12795331927953319Humanname
401761087CV2726637single nucleotide variantNM_014474.4(SMPDL3B):c.968G>A (p.Arg323Gln)not specified [RCV004322988]uncertain significance12795604527956045Humanname
405713045CV3329878single nucleotide variantNM_014474.4(SMPDL3B):c.298G>A (p.Asp100Asn)not specified [RCV004462079]likely benign12794908727949087Humanname
405713050CV3329879single nucleotide variantNM_014474.4(SMPDL3B):c.320C>T (p.Ala107Val)not specified [RCV004462080]uncertain significance12794910927949109Humanname
405713059CV3329880single nucleotide variantNM_014474.4(SMPDL3B):c.499A>G (p.Ile167Val)not specified [RCV004462081]uncertain significance12795334027953340Humanname
405713072CV3329882single nucleotide variantNM_014474.4(SMPDL3B):c.767A>G (p.Asn256Ser)not specified [RCV004462083]uncertain significance12795576027955760Humanname
405713078CV3329883single nucleotide variantNM_014474.4(SMPDL3B):c.935G>C (p.Gly312Ala)not specified [RCV004462084]uncertain significance12795601227956012Humanname
405713086CV3329884single nucleotide variantNM_014474.4(SMPDL3B):c.937G>T (p.Val313Leu)not specified [RCV004462085]uncertain significance12795601427956014Humanname
405713090CV3329885single nucleotide variantNM_014474.4(SMPDL3B):c.945T>G (p.Asn315Lys)not specified [RCV004462086]uncertain significance12795602227956022Humanname
407503326CV3474480single nucleotide variantNM_014474.4(SMPDL3B):c.523T>A (p.Phe175Ile)not specified [RCV004670211]uncertain significance12795435927954359Humanname
407503333CV3474483single nucleotide variantNM_014474.4(SMPDL3B):c.331A>T (p.Ile111Phe)not specified [RCV004670213]uncertain significance12794912027949120Humanname
597744166CV3597279single nucleotide variantNM_014474.4(SMPDL3B):c.461T>C (p.Ile154Thr)not specified [RCV004865409]uncertain significance12795330227953302Humanname
597744174CV3597281single nucleotide variantNM_014474.4(SMPDL3B):c.953A>G (p.Asn318Ser)not specified [RCV004865411]uncertain significance12795603027956030Humanname
597727308CV3597282single nucleotide variantNM_014474.4(SMPDL3B):c.497C>T (p.Ser166Phe)not specified [RCV004862667]uncertain significance12795333827953338Humanname
598170411CV3915207single nucleotide variantNM_014474.4(SMPDL3B):c.799C>T (p.His267Tyr)not specified [RCV005284592]uncertain significance12795579227955792Humanname
598170419CV3915210single nucleotide variantNM_014474.4(SMPDL3B):c.553G>A (p.Gly185Arg)not specified [RCV005284594]uncertain significance12795438927954389Humanname
598170423CV3915211single nucleotide variantNM_014474.4(SMPDL3B):c.713C>T (p.Pro238Leu)not specified [RCV005284595]uncertain significance12795570627955706Humanname
598238237CV3915212single nucleotide variantNM_014474.4(SMPDL3B):c.886G>T (p.Ala296Ser)not specified [RCV005275800]uncertain significance12795596327955963Humanname
155934280CV2225242single nucleotide variantNM_014474.4(SMPDL3B):c.1147G>A (p.Ala383Thr)not specified [RCV004098893]uncertain significance12795861727958617Humanname
156248014CV2276943single nucleotide variantNM_014474.4(SMPDL3B):c.1360G>A (p.Val454Met)not specified [RCV004140277]uncertain significance12795883027958830Humanname
156142656CV2358513single nucleotide variantNM_014474.4(SMPDL3B):c.1158G>C (p.Gln386His)not specified [RCV004207397]uncertain significance12795862827958628Humanname
329377109CV2435812single nucleotide variantNM_014474.4(SMPDL3B):c.1061G>A (p.Arg354His)not specified [RCV004253433]uncertain significance12795853127958531Humanname
401725864CV2687318single nucleotide variantNM_014474.4(SMPDL3B):c.1357C>T (p.Leu453Phe)not specified [RCV004298252]uncertain significance12795882727958827Humanname
405713027CV3329875single nucleotide variantNM_014474.4(SMPDL3B):c.1058C>T (p.Pro353Leu)not specified [RCV004462076]uncertain significance12795852827958528Humanname
405713033CV3329876single nucleotide variantNM_014474.4(SMPDL3B):c.1064G>T (p.Trp355Leu)not specified [RCV004462077]uncertain significance12795853427958534Humanname
407503329CV3474481single nucleotide variantNM_014474.4(SMPDL3B):c.1247C>T (p.Ala416Val)not specified [RCV004670212]uncertain significance12795871727958717Humanname
407452479CV3474482single nucleotide variantNM_014474.4(SMPDL3B):c.1262A>G (p.Asp421Gly)not specified [RCV004684065]uncertain significance12795873227958732Humanname
597744156CV3597277single nucleotide variantNM_014474.4(SMPDL3B):c.1237C>T (p.His413Tyr)not specified [RCV004865407]uncertain significance12795870727958707Humanname
597744170CV3597280single nucleotide variantNM_014474.4(SMPDL3B):c.1304C>T (p.Thr435Met)not specified [RCV004865410]uncertain significance12795877427958774Humanname
598170407CV3915206single nucleotide variantNM_014474.4(SMPDL3B):c.1256A>G (p.Gln419Arg)not specified [RCV005284591]uncertain significance12795872627958726Humanname
598170415CV3915209single nucleotide variantNM_014474.4(SMPDL3B):c.1172G>A (p.Arg391His)not specified [RCV005284593]likely benign12795864227958642Humanname
598170431CV3915214single nucleotide variantNM_014474.4(SMPDL3B):c.1351T>C (p.Cys451Arg)not specified [RCV005284597]likely benign12795882127958821Humanname
15143858CV707327single nucleotide variantNM_014474.4(SMPDL3B):c.1142G>A (p.Arg381His)not provided [RCV000966739]benign12795861227958612Humanname