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50 records found for search term Npepps
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401904042CV2811452single nucleotide variantNM_006310.4(NPEPPS):c.256-7C>Tnot provided [RCV003419766]likely benign174754590247545902Humanname
15163763CV731152single nucleotide variantNM_006310.4(NPEPPS):c.1096-8G>Cnot provided [RCV000882044]benign174759070947590709Humanname
15115805CV760560single nucleotide variantNM_006310.4(NPEPPS):c.2239-4G>Tnot provided [RCV000917517]benign174761366547613665Humanname
8636213CV91437single nucleotide variantNM_006310.3(NPEPPS):c.1741-14G>AMalignant melanoma [RCV000071535]not provided174760390147603901Humanname
15176431CV704191single nucleotide variantNM_006310.4(NPEPPS):c.219C>T (p.Asp73=)not provided [RCV000950823]likely benign174753151947531519Humanname
15169439CV715510single nucleotide variantNM_006310.4(NPEPPS):c.118C>T (p.Leu40=)not provided [RCV000971811]benign174753141847531418Humanname
155903401CV2301635single nucleotide variantNM_006310.4(NPEPPS):c.44T>C (p.Leu15Pro)not specified [RCV004162538]uncertain significance174753134447531344Humanname
401767927CV2730012single nucleotide variantNM_006310.4(NPEPPS):c.82G>C (p.Val28Leu)not specified [RCV004332991]likely benign174753138247531382Humanname
401729082CV2730013single nucleotide variantNM_006310.4(NPEPPS):c.85T>C (p.Phe29Leu)not specified [RCV004332992]likely benign174753138547531385Humanname
405692249CV3352188single nucleotide variantNM_006310.4(NPEPPS):c.38G>T (p.Arg13Leu)not specified [RCV004490967]uncertain significance174753133847531338Humanname
597642533CV3566410single nucleotide variantNM_006310.4(NPEPPS):c.91C>G (p.Arg31Gly)not specified [RCV004832460]uncertain significance174753139147531391Humanname
597685443CV3566411single nucleotide variantNM_006310.4(NPEPPS):c.37C>G (p.Arg13Gly)not specified [RCV004838044]uncertain significance174753133747531337Humanname
598129025CV3886828single nucleotide variantNM_006310.4(NPEPPS):c.423G>A (p.Thr141=)not provided [RCV005244488]likely benign174757939447579394Humanname
15113545CV715511single nucleotide variantNM_006310.4(NPEPPS):c.990A>G (p.Ala330=)not provided [RCV000961511]benign174758723947587239Humanname
15189877CV778390deletionNM_006310.4(NPEPPS):c.1095+14_1095+33delnot provided [RCV000954309]likely benign174758735247587371Humanname
405692204CV3352181single nucleotide variantNM_006310.4(NPEPPS):c.109C>T (p.Leu37Phe)not specified [RCV004490960]uncertain significance174753140947531409Humanname
405692243CV3352187single nucleotide variantNM_006310.4(NPEPPS):c.254A>G (p.Gln85Arg)not specified [RCV004490966]uncertain significance174753155447531554Humanname
597685406CV3566416single nucleotide variantNM_006310.4(NPEPPS):c.182T>A (p.Ile61Asn)not specified [RCV004838048]uncertain significance174753148247531482Humanname
15154472CV715512single nucleotide variantNM_006310.4(NPEPPS):c.1071A>G (p.Gln357=)not provided [RCV000968743]benign174758732047587320Humanname
156281587CV2220573single nucleotide variantNM_006310.4(NPEPPS):c.815T>C (p.Val272Ala)not specified [RCV004097772]uncertain significance174758566647585666Humanname
156004159CV2396873single nucleotide variantNM_006310.4(NPEPPS):c.673C>T (p.Pro225Ser)not specified [RCV004233997]uncertain significance174758552447585524Humanname
405692256CV3352189single nucleotide variantNM_006310.4(NPEPPS):c.622A>G (p.Lys208Glu)not specified [RCV004490968]uncertain significance174758282347582823Humanname
597685421CV3566413single nucleotide variantNM_006310.4(NPEPPS):c.706G>T (p.Ala236Ser)not specified [RCV004838046]uncertain significance174758555747585557Humanname
151352485CV1321497single nucleotide variantNM_006310.4(NPEPPS):c.2617G>C (p.Glu873Gln)not provided [RCV001811888]uncertain significance174762177747621777Humanname
151352624CV1321707single nucleotide variantNM_006310.4(NPEPPS):c.2158G>A (p.Ala720Thr)not provided [RCV001812581]uncertain significance174761252247612522Humanname
156374220CV2198308single nucleotide variantNM_006310.4(NPEPPS):c.2735G>A (p.Arg912Gln)not specified [RCV004081861]uncertain significance174762189547621895Humanname
156387313CV2221473single nucleotide variantNM_006310.4(NPEPPS):c.1768C>T (p.Arg590Trp)not specified [RCV004096754]uncertain significance174760394247603942Humanname
156193823CV2223293single nucleotide variantNM_006310.4(NPEPPS):c.1355T>C (p.Ile452Thr)not specified [RCV004105904]uncertain significance174759205047592050Humanname
156164314CV2246776single nucleotide variantNM_006310.4(NPEPPS):c.2243A>T (p.Tyr748Phe)not specified [RCV004112308]uncertain significance174761367347613673Humanname
155959431CV2285274single nucleotide variantNM_006310.4(NPEPPS):c.2353G>A (p.Ala785Thr)not specified [RCV004137370]uncertain significance174761840747618407Humanname
156074307CV2321660single nucleotide variantNM_006310.4(NPEPPS):c.1664C>G (p.Ala555Gly)not specified [RCV004179670]uncertain significance174760167147601671Humanname
156361573CV2326623single nucleotide variantNM_006310.4(NPEPPS):c.2179C>T (p.Arg727Cys)not specified [RCV004183161]uncertain significance174761254347612543Humanname
156142628CV2358511single nucleotide variantNM_006310.4(NPEPPS):c.1520A>G (p.Tyr507Cys)not specified [RCV004207395]uncertain significance174759644647596446Humanname
329392144CV2445377single nucleotide variantNM_006310.4(NPEPPS):c.2344G>A (p.Val782Ile)not specified [RCV004263992]uncertain significance174761839847618398Humanname
401898823CV2782730single nucleotide variantNM_006310.4(NPEPPS):c.1705G>A (p.Val569Ile)not specified [RCV004359733]uncertain significance174760171247601712Humanname
405692210CV3352182single nucleotide variantNM_006310.4(NPEPPS):c.1217G>A (p.Arg406His)not specified [RCV004490961]uncertain significance174759083847590838Humanname
405692215CV3352183single nucleotide variantNM_006310.4(NPEPPS):c.1255A>G (p.Ile419Val)not specified [RCV004490962]uncertain significance174759087647590876Humanname
405692225CV3352184single nucleotide variantNM_006310.4(NPEPPS):c.1540G>A (p.Glu514Lys)not specified [RCV004490963]uncertain significance174759967947599679Humanname
405692232CV3352185single nucleotide variantNM_006310.4(NPEPPS):c.1780A>T (p.Ser594Cys)not specified [RCV004490964]uncertain significance174760395447603954Humanname
405692237CV3352186single nucleotide variantNM_006310.4(NPEPPS):c.2005A>G (p.Thr669Ala)not specified [RCV004490965]uncertain significance174760546247605462Humanname
407498645CV3465618single nucleotide variantNM_006310.4(NPEPPS):c.1028G>A (p.Arg343His)not specified [RCV004644080]uncertain significance174758727747587277Humanname
597685454CV3566409single nucleotide variantNM_006310.4(NPEPPS):c.1817G>A (p.Arg606His)not specified [RCV004838043]uncertain significance174760399147603991Humanname
597685432CV3566412single nucleotide variantNM_006310.4(NPEPPS):c.2002C>G (p.His668Asp)not specified [RCV004838045]uncertain significance174760545947605459Humanname
597642539CV3566414single nucleotide variantNM_006310.4(NPEPPS):c.1036G>A (p.Val346Ile)not specified [RCV004832461]uncertain significance174758728547587285Humanname
597685413CV3566415single nucleotide variantNM_006310.4(NPEPPS):c.2522G>A (p.Arg841Gln)not specified [RCV004838047]uncertain significance174761912747619127Humanname
597685398CV3566417single nucleotide variantNM_006310.4(NPEPPS):c.2667A>C (p.Glu889Asp)not specified [RCV004838049]uncertain significance174762182747621827Humanname
597685386CV3566418single nucleotide variantNM_006310.4(NPEPPS):c.2171A>C (p.Glu724Ala)not specified [RCV004838050]uncertain significance174761253547612535Humanname
598218916CV4001044single nucleotide variantNM_006310.4(NPEPPS):c.2641G>A (p.Glu881Lys)not specified [RCV005379260]uncertain significance174762180147621801Humanname
598264221CV4001045single nucleotide variantNM_006310.4(NPEPPS):c.2254T>A (p.Leu752Met)not specified [RCV005387713]uncertain significance174761368447613684Humanname
598218923CV4001046single nucleotide variantNM_006310.4(NPEPPS):c.1415A>G (p.Asn472Ser)not specified [RCV005379261]uncertain significance174759253447592534Humanname