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100 records found for search term Slc7a2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401724608CV2677932single nucleotide variantNM_001370338.1(SLC7A2):c.-6G>Anot specified [RCV004294418]uncertain significance81754333417543334Humanname
405770396CV3322244single nucleotide variantNM_001370338.1(SLC7A2):c.-9G>Cnot specified [RCV004456875]uncertain significance81754333117543331Humanname
401759623CV2701639single nucleotide variantNM_001370338.1(SLC7A2):c.-11C>Tnot specified [RCV004314056]uncertain significance81754332917543329Humanname
405293264CV3207347single nucleotide variantNM_001370338.1(SLC7A2):c.-19G>ASLC7A2-related disorder [RCV003931736]benign81754332117543321Humanname , trait , alternate_id
597725021CV3606720single nucleotide variantNM_001370338.1(SLC7A2):c.-14C>Tnot specified [RCV004862381]uncertain significance81754332617543326Humanname
405288029CV3218089single nucleotide variantNM_001370338.1(SLC7A2):c.533-4A>GSLC7A2-related disorder [RCV003982214]benign81754867417548674Humanname , trait , alternate_id
155795139CV1858941single nucleotide variantNM_001370338.1(SLC7A2):c.1195+360C>TMyoepithelial tumor [RCV002463906]uncertain significance81755505917555059Human1name
156134845CV2213241single nucleotide variantNM_001370338.1(SLC7A2):c.-22-4454A>Gnot specified [RCV004085463]uncertain significance81753886417538864Humanname
156220031CV2226071single nucleotide variantNM_001370338.1(SLC7A2):c.-22-4477G>Anot specified [RCV004105219]uncertain significance81753884117538841Humanname
156281190CV2338443single nucleotide variantNM_001370338.1(SLC7A2):c.-22-4407C>Anot specified [RCV004186486]uncertain significance81753891117538911Human1name
156281190CV2338443single nucleotide variantNM_001370338.1(SLC7A2):c.-22-4407C>Anot specified [RCV004186486]uncertain significance81753891117538912Human1name
405276328CV3193379single nucleotide variantNM_001370338.1(SLC7A2):c.-22-4412G>CSLC7A2-related disorder [RCV003974546]benign81753890617538906Humanname , trait , alternate_id
405276670CV3193494single nucleotide variantNM_001370338.1(SLC7A2):c.-22-4447G>ASLC7A2-related disorder [RCV003974662]benign81753887117538871Humanname , trait , alternate_id
405283975CV3200464single nucleotide variantNM_001370338.1(SLC7A2):c.-22-4386A>CSLC7A2-related disorder [RCV003979486]benign81753893217538932Humanname , trait , alternate_id
597776614CV3606728single nucleotide variantNM_001370338.1(SLC7A2):c.-22-4415T>Gnot specified [RCV004872843]uncertain significance81753890317538903Humanname
597776618CV3606730single nucleotide variantNM_001370338.1(SLC7A2):c.-22-4463G>Tnot specified [RCV004872844]uncertain significance81753885517538855Humanname
598260094CV3922014single nucleotide variantNM_001370338.1(SLC7A2):c.-22-4487A>Gnot specified [RCV005279716]uncertain significance81753883117538831Humanname
598260113CV3922018single nucleotide variantNM_001370338.1(SLC7A2):c.-22-4406A>Gnot specified [RCV005279720]uncertain significance81753891217538912Humanname
407515690CV3481102single nucleotide variantNM_001370338.1(SLC7A2):c.13A>G (p.Arg5Gly)not specified [RCV004675018]uncertain significance81754335217543352Humanname
598260072CV3922010single nucleotide variantNM_001370338.1(SLC7A2):c.94C>T (p.Arg32Cys)not specified [RCV005279712]uncertain significance81754343317543433Humanname
598260104CV3922016single nucleotide variantNM_001370338.1(SLC7A2):c.83C>T (p.Thr28Ile)not specified [RCV005279718]uncertain significance81754342217543422Humanname
401762509CV2723470single nucleotide variantNM_001370338.1(SLC7A2):c.275G>A (p.Arg92His)not specified [RCV004323539]uncertain significance81754361417543614Humanname
405283629CV3191806single nucleotide variantNM_001370338.1(SLC7A2):c.1581C>T (p.Leu527=)SLC7A2-related disorder [RCV003921904]benign81756202017562020Humanname , trait , alternate_id
405770423CV3322248single nucleotide variantNM_001370338.1(SLC7A2):c.109A>G (p.Met37Val)not specified [RCV004456879]uncertain significance81754344817543448Humanname
405770428CV3322249single nucleotide variantNM_001370338.1(SLC7A2):c.205G>A (p.Val69Met)not specified [RCV004456880]uncertain significance81754354417543544Humanname
405770433CV3322250single nucleotide variantNM_001370338.1(SLC7A2):c.232G>T (p.Ala78Ser)not specified [RCV004456881]uncertain significance81754357117543571Humanname
597776610CV3606727single nucleotide variantNM_001370338.1(SLC7A2):c.194G>A (p.Gly65Asp)not specified [RCV004872842]uncertain significance81754353317543533Humanname
598260068CV3922009single nucleotide variantNM_001370338.1(SLC7A2):c.166G>A (p.Ala56Thr)not specified [RCV005279711]uncertain significance81754350517543505Humanname
598260089CV3922013single nucleotide variantNM_001370338.1(SLC7A2):c.136A>G (p.Ser46Gly)not specified [RCV005279715]uncertain significance81754347517543475Humanname
15176048CV700494single nucleotide variantNM_001370338.1(SLC7A2):c.1522C>T (p.Leu508=)not provided [RCV000950733]benign81756196117561961Humanname
15101030CV700495single nucleotide variantNM_001370338.1(SLC7A2):c.1713G>C (p.Val571=)not provided [RCV000959006]benign81756364417563644Humanname
15145921CV711424single nucleotide variantNM_001370338.1(SLC7A2):c.1218C>T (p.Asp406=)not provided [RCV000967080]benign81755831717558317Humanname
8632919CV88134single nucleotide variantNM_001008539.3(SLC7A2):c.1626C>T (p.Leu542=)Malignant melanoma [RCV000068226]not provided81756206517562065Humanname
8632920CV88135single nucleotide variantNM_001008539.3(SLC7A2):c.1947C>T (p.Phe649=)Malignant melanoma [RCV000068227]not provided81756511617565116Humanname
156329241CV2213799single nucleotide variantNM_001370338.1(SLC7A2):c.368A>G (p.Tyr123Cys)not specified [RCV004089859]uncertain significance81754370717543707Humanname
156027563CV2278441single nucleotide variantNM_001370338.1(SLC7A2):c.612T>G (p.Phe204Leu)not specified [RCV004132895]uncertain significance81754875717548757Humanname
156251668CV2286871single nucleotide variantNM_001370338.1(SLC7A2):c.455C>T (p.Thr152Ile)not specified [RCV004142670]uncertain significance81754452917544529Humanname
156344549CV2294116single nucleotide variantNM_001370338.1(SLC7A2):c.800C>T (p.Ala267Val)not specified [RCV004149486]uncertain significance81755040217550402Humanname
156191622CV2301825single nucleotide variantNM_001370338.1(SLC7A2):c.971C>T (p.Pro324Leu)not specified [RCV004156621]uncertain significance81755190217551902Humanname
155955783CV2303951single nucleotide variantNM_001370338.1(SLC7A2):c.468G>A (p.Met156Ile)not specified [RCV004168222]uncertain significance81754454217544542Humanname
156070214CV2355978single nucleotide variantNM_001370338.1(SLC7A2):c.764C>T (p.Thr255Met)not specified [RCV004201357]uncertain significance81755036617550366Humanname
156050547CV2378465single nucleotide variantNM_001370338.1(SLC7A2):c.731A>T (p.Tyr244Phe)not specified [RCV004228523]uncertain significance81755033317550333Humanname
156088166CV2388342single nucleotide variantNM_001370338.1(SLC7A2):c.952C>G (p.Leu318Val)not specified [RCV004234793]uncertain significance81755188317551883Humanname
329377061CV2451678single nucleotide variantNM_001370338.1(SLC7A2):c.424C>G (p.Leu142Val)not specified [RCV004274593]uncertain significance81754449817544498Humanname
401738561CV2676321single nucleotide variantNM_001370338.1(SLC7A2):c.660T>G (p.Ile220Met)not specified [RCV004286355]uncertain significance81754880517548805Humanname
401775501CV2710592single nucleotide variantNM_001370338.1(SLC7A2):c.508G>T (p.Val170Leu)not specified [RCV004319509]uncertain significance81754458217544582Humanname
401774645CV2713585single nucleotide variantNM_001370338.1(SLC7A2):c.943C>A (p.Pro315Thr)not specified [RCV004320964]uncertain significance81755187417551874Humanname
401894115CV2770312single nucleotide variantNM_001370338.1(SLC7A2):c.394A>G (p.Arg132Gly)not specified [RCV004356188]uncertain significance81754446817544468Humanname
405287327CV3210636single nucleotide variantNM_001370338.1(SLC7A2):c.313G>C (p.Val105Leu)SLC7A2-related disorder [RCV003924407]benign81754365217543652Humanname , trait , alternate_id
405770438CV3322251single nucleotide variantNM_001370338.1(SLC7A2):c.305A>G (p.Tyr102Cys)not specified [RCV004456882]uncertain significance81754364417543644Humanname
405770445CV3322252single nucleotide variantNM_001370338.1(SLC7A2):c.652T>C (p.Trp218Arg)not specified [RCV004456883]uncertain significance81754879717548797Humanname
405770452CV3322253single nucleotide variantNM_001370338.1(SLC7A2):c.680A>G (p.Asn227Ser)not specified [RCV004456884]uncertain significance81754882517548825Humanname
405770458CV3322254single nucleotide variantNM_001370338.1(SLC7A2):c.707C>T (p.Pro236Leu)not specified [RCV004456885]uncertain significance81755030917550309Humanname
407451951CV3481096single nucleotide variantNM_001370338.1(SLC7A2):c.898T>C (p.Phe300Leu)not specified [RCV004683858]uncertain significance81755182917551829Humanname
407451957CV3481098single nucleotide variantNM_001370338.1(SLC7A2):c.540G>T (p.Leu180Phe)not specified [RCV004683860]uncertain significance81754868517548685Humanname
407515688CV3481101single nucleotide variantNM_001370338.1(SLC7A2):c.479G>T (p.Gly160Val)not specified [RCV004675017]uncertain significance81754455317544553Humanname
407515693CV3481103single nucleotide variantNM_001370338.1(SLC7A2):c.322G>A (p.Gly108Arg)not specified [RCV004675019]uncertain significance81754366117543661Humanname
597776597CV3606724single nucleotide variantNM_001370338.1(SLC7A2):c.718G>A (p.Gly240Arg)not specified [RCV004872839]uncertain significance81755032017550320Humanname
597776602CV3606725single nucleotide variantNM_001370338.1(SLC7A2):c.535C>G (p.Leu179Val)not specified [RCV004872840]uncertain significance81754868017548680Humanname
598260099CV3922015single nucleotide variantNM_001370338.1(SLC7A2):c.958G>A (p.Asp320Asn)not specified [RCV005279717]uncertain significance81755188917551889Humanname
8632918CV88133single nucleotide variantNM_001008539.3(SLC7A2):c.355C>T (p.Leu119Phe)Malignant melanoma [RCV000068225]not provided81754369417543694Humanname
156381979CV2212512single nucleotide variantNM_001370338.1(SLC7A2):c.1297A>G (p.Arg433Gly)not specified [RCV004091396]uncertain significance81755839617558396Humanname
156190404CV2226903single nucleotide variantNM_001370338.1(SLC7A2):c.1334G>A (p.Cys445Tyr)not specified [RCV004103877]likely benign81756036317560363Humanname
156036622CV2243596single nucleotide variantNM_001370338.1(SLC7A2):c.1103C>T (p.Ala368Val)not specified [RCV004114325]uncertain significance81755460717554607Humanname
156038012CV2278893single nucleotide variantNM_001370338.1(SLC7A2):c.1811G>C (p.Arg604Thr)not specified [RCV004145595]uncertain significance81756498017564980Humanname
155998110CV2288702single nucleotide variantNM_001370338.1(SLC7A2):c.1430G>A (p.Arg477Gln)not specified [RCV004153993]uncertain significance81756045917560459Humanname
156012651CV2291285single nucleotide variantNM_001370338.1(SLC7A2):c.1339C>A (p.Pro447Thr)not specified [RCV004153565]uncertain significance81756036817560368Humanname
156188019CV2292509single nucleotide variantNM_001370338.1(SLC7A2):c.1124A>T (p.Lys375Ile)not specified [RCV004150288]uncertain significance81755462817554628Humanname
156150959CV2307519single nucleotide variantNM_001370338.1(SLC7A2):c.1355T>A (p.Leu452Gln)not specified [RCV004166165]uncertain significance81756038417560384Humanname
156290418CV2324903single nucleotide variantNM_001370338.1(SLC7A2):c.1847A>G (p.Asn616Ser)not specified [RCV004175168]uncertain significance81756501617565016Humanname
155921576CV2350691single nucleotide variantNM_001370338.1(SLC7A2):c.1088T>C (p.Val363Ala)not specified [RCV004207040]uncertain significance81755459217554592Humanname
156063856CV2352848single nucleotide variantNM_001370338.1(SLC7A2):c.1429C>T (p.Arg477Trp)not specified [RCV004198853]uncertain significance81756045817560458Humanname
156282663CV2363146single nucleotide variantNM_001370338.1(SLC7A2):c.1723T>A (p.Leu575Met)not specified [RCV004211269]uncertain significance81756365417563654Humanname
156093880CV2389749single nucleotide variantNM_001370338.1(SLC7A2):c.1535C>G (p.Thr512Ser)not specified [RCV004243795]uncertain significance81756197417561974Humanname
329356210CV2430635single nucleotide variantNM_001370338.1(SLC7A2):c.1435C>T (p.Leu479Phe)not specified [RCV004253827]uncertain significance81756046417560464Humanname
329398055CV2466584single nucleotide variantNM_001370338.1(SLC7A2):c.1872C>A (p.Asn624Lys)not specified [RCV004274116]uncertain significance81756504117565041Humanname
401729428CV2683677single nucleotide variantNM_001370338.1(SLC7A2):c.1111G>A (p.Gly371Arg)not specified [RCV004284426]uncertain significance81755461517554615Humanname
401860373CV2768569single nucleotide variantNM_001370338.1(SLC7A2):c.1882G>C (p.Ala628Pro)not specified [RCV004344434]uncertain significance81756505117565051Humanname
405276182CV3193309insertionNM_001370338.1(SLC7A2):c.-22-4388_-22-4387insCSLC7A2-related disorder [RCV003974476]benign81753893017538931Humanname , trait , alternate_id
405288334CV3197299single nucleotide variantNM_001370338.1(SLC7A2):c.1127G>C (p.Cys376Ser)SLC7A2-related disorder [RCV003982395]benign81755463117554631Humanname , trait , alternate_id
405283681CV3199692single nucleotide variantNM_001370338.1(SLC7A2):c.1591G>A (p.Ala531Thr)SLC7A2-related disorder [RCV003979357]benign81756203017562030Humanname , trait , alternate_id
405255889CV3208350single nucleotide variantNM_001370338.1(SLC7A2):c.1924C>T (p.Pro642Ser)SLC7A2-related disorder [RCV003939460]likely benign81756509317565093Humanname , trait , alternate_id
405770409CV3322246single nucleotide variantNM_001370338.1(SLC7A2):c.1157C>T (p.Thr386Ile)not specified [RCV004456877]uncertain significance81755466117554661Humanname
405770418CV3322247single nucleotide variantNM_001370338.1(SLC7A2):c.1366C>G (p.Pro456Ala)not specified [RCV004456878]likely benign81756039517560395Humanname
407451954CV3481097single nucleotide variantNM_001370338.1(SLC7A2):c.1078A>C (p.Met360Leu)not specified [RCV004683859]uncertain significance81755458217554582Humanname
407515681CV3481099single nucleotide variantNM_001370338.1(SLC7A2):c.1715A>G (p.Asn572Ser)not specified [RCV004675015]uncertain significance81756364617563646Humanname
407515684CV3481100single nucleotide variantNM_001370338.1(SLC7A2):c.1279G>A (p.Ala427Thr)not specified [RCV004675016]uncertain significance81755837817558378Humanname
597725030CV3606721single nucleotide variantNM_001370338.1(SLC7A2):c.1091T>C (p.Ile364Thr)not specified [RCV004862382]uncertain significance81755459517554595Humanname
597725039CV3606722single nucleotide variantNM_001370338.1(SLC7A2):c.1592C>T (p.Ala531Val)not specified [RCV004862383]likely benign81756203117562031Humanname
597776593CV3606723single nucleotide variantNM_001370338.1(SLC7A2):c.1474T>G (p.Ser492Ala)not specified [RCV004872838]uncertain significance81756050317560503Humanname
597776605CV3606726single nucleotide variantNM_001370338.1(SLC7A2):c.1105G>A (p.Glu369Lys)not specified [RCV004872841]uncertain significance81755460917554609Humanname
597725047CV3606729single nucleotide variantNM_001370338.1(SLC7A2):c.1085G>A (p.Arg362His)not specified [RCV004862384]uncertain significance81755458917554589Humanname
598260062CV3922008single nucleotide variantNM_001370338.1(SLC7A2):c.1927A>G (p.Arg643Gly)not specified [RCV005279710]uncertain significance81756509617565096Humanname
598260078CV3922011single nucleotide variantNM_001370338.1(SLC7A2):c.1237A>G (p.Met413Val)not specified [RCV005279713]uncertain significance81755833617558336Humanname
598260084CV3922012single nucleotide variantNM_001370338.1(SLC7A2):c.1397T>A (p.Val466Asp)not specified [RCV005279714]uncertain significance81756042617560426Humanname
598260109CV3922017single nucleotide variantNM_001370338.1(SLC7A2):c.1247T>C (p.Ile416Thr)not specified [RCV005279719]uncertain significance81755834617558346Humanname
598260118CV3922019single nucleotide variantNM_001370338.1(SLC7A2):c.1370G>A (p.Arg457Lys)not specified [RCV005279721]uncertain significance81756039917560399Humanname
598260123CV3922020single nucleotide variantNM_001370338.1(SLC7A2):c.1142A>C (p.Asn381Thr)not specified [RCV005279722]uncertain significance81755464617554646Humanname
13832731CV583668single nucleotide variantNM_001370338.1(SLC7A2):c.1267T>C (p.Ser423Pro)not provided [RCV000727673]uncertain significance81755836617558366Humanname
8626549CV81693single nucleotide variantNM_001008539.3(SLC7A2):c.1060C>T (p.Leu354Phe)Malignant melanoma [RCV000061771]not provided81755456417554564Humanname