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Variants search result for Homo sapiens
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68 records found for search term Slc35b2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
597765229CV3603093single nucleotide variantNM_178148.4(SLC35B2):c.22G>T (p.Val8Leu)not specified [RCV004870320]uncertain significance64425686844256868Humanname
156326586CV2201946single nucleotide variantNM_178148.4(SLC35B2):c.80C>A (p.Pro27His)not specified [RCV004075876]uncertain significance64425681044256810Humanname
401940575CV2840581single nucleotide variantNM_178148.4(SLC35B2):c.645C>T (p.Ala215=)not provided [RCV003457139]likely benign64425536044255360Humanname
405853320CV3392875single nucleotide variantNM_178148.4(SLC35B2):c.369T>C (p.Tyr123=)not specified [RCV004527032]likely benign64425563644255636Humanname
405853322CV3392876single nucleotide variantNM_178148.4(SLC35B2):c.618C>T (p.Phe206=)not specified [RCV004527033]likely benign64425538744255387Humanname
597702100CV3603088single nucleotide variantNM_178148.4(SLC35B2):c.99G>C (p.Gln33His)not specified [RCV004860058]uncertain significance64425679144256791Humanname
15161736CV710542single nucleotide variantNM_178148.4(SLC35B2):c.450G>A (p.Thr150=)not provided [RCV000970142]benign64425555544255555Humanname
401858920CV2780956single nucleotide variantNM_178148.4(SLC35B2):c.287C>G (p.Pro96Arg)not specified [RCV004354489]uncertain significance64425641544256415Humanname
407451113CV3484411single nucleotide variantNM_178148.4(SLC35B2):c.178T>G (p.Phe60Val)not specified [RCV004672581]uncertain significance64425671244256712Humanname
597702109CV3603092single nucleotide variantNM_178148.4(SLC35B2):c.206G>A (p.Gly69Asp)not specified [RCV004860059]uncertain significance64425649644256496Humanname
156223005CV2232889single nucleotide variantNM_178148.4(SLC35B2):c.425C>T (p.Ala142Val)not specified [RCV004101496]uncertain significance64425558044255580Humanname
156343764CV2232890single nucleotide variantNM_178148.4(SLC35B2):c.545C>A (p.Pro182His)not specified [RCV004101497]uncertain significance64425546044255460Humanname
156071443CV2289777single nucleotide variantNM_178148.4(SLC35B2):c.896C>T (p.Ser299Leu)Treacher Collins syndrome 3 [RCV004725604]|not specified [RCV004150462]likely benign|uncertain significance64425510944255109Human1name
156199244CV2293776single nucleotide variantNM_178148.4(SLC35B2):c.596G>A (p.Cys199Tyr)not specified [RCV004155056]uncertain significance64425540944255409Humanname
156291671CV2306114single nucleotide variantNM_178148.4(SLC35B2):c.706G>A (p.Glu236Lys)not specified [RCV004162869]uncertain significance64425529944255299Humanname
156076616CV2321903single nucleotide variantNM_178148.4(SLC35B2):c.563T>C (p.Phe188Ser)not specified [RCV004173372]uncertain significance64425544244255442Humanname
156395405CV2329174single nucleotide variantNM_178148.4(SLC35B2):c.784C>T (p.Arg262Cys)not specified [RCV004173928]uncertain significance64425522144255221Humanname
156284259CV2334748single nucleotide variantNM_178148.4(SLC35B2):c.998G>A (p.Arg333Gln)not specified [RCV004188726]uncertain significance64425500744255007Humanname
155977832CV2339859single nucleotide variantNM_178148.4(SLC35B2):c.495T>G (p.Ile165Met)not specified [RCV004189966]likely benign64425551044255510Humanname
156223816CV2355612single nucleotide variantNM_178148.4(SLC35B2):c.839C>T (p.Ala280Val)not specified [RCV004205453]uncertain significance64425516644255166Humanname
155927049CV2365863single nucleotide variantNM_178148.4(SLC35B2):c.619G>A (p.Val207Ile)not specified [RCV004214393]uncertain significance64425538644255386Humanname
156390114CV2373077single nucleotide variantNM_178148.4(SLC35B2):c.785G>C (p.Arg262Pro)not specified [RCV004217774]uncertain significance64425522044255220Humanname
156058534CV2383438single nucleotide variantNM_178148.4(SLC35B2):c.434C>T (p.Pro145Leu)not specified [RCV004222458]uncertain significance64425557144255571Humanname
329349541CV2444649single nucleotide variantNM_178148.4(SLC35B2):c.554G>A (p.Arg185Gln)not specified [RCV004258914]uncertain significance64425545144255451Humanname
329350450CV2469169single nucleotide variantNM_178148.4(SLC35B2):c.791C>T (p.Ser264Phe)not specified [RCV004280527]uncertain significance64425521444255214Humanname
401747526CV2709149single nucleotide variantNM_178148.4(SLC35B2):c.442C>T (p.Arg148Cys)not specified [RCV004316336]uncertain significance64425556344255563Humanname
401749165CV2731804single nucleotide variantNM_178148.4(SLC35B2):c.548T>C (p.Met183Thr)not specified [RCV004333057]uncertain significance64425545744255457Humanname
401856896CV2761336single nucleotide variantNM_178148.4(SLC35B2):c.748G>A (p.Val250Ile)not specified [RCV004341202]uncertain significance64425525744255257Humanname
401858907CV2769820single nucleotide variantNM_178148.4(SLC35B2):c.677T>C (p.Met226Thr)not specified [RCV004353684]uncertain significance64425532844255328Humanname
405784362CV3332708single nucleotide variantNM_178148.4(SLC35B2):c.635A>T (p.Gln212Leu)not specified [RCV004459226]uncertain significance64425537044255370Humanname
405784368CV3332709single nucleotide variantNM_178148.4(SLC35B2):c.703T>C (p.Tyr235His)not specified [RCV004459227]uncertain significance64425530244255302Humanname
407451101CV3484405single nucleotide variantNM_178148.4(SLC35B2):c.785G>A (p.Arg262His)not specified [RCV004672576]uncertain significance64425522044255220Humanname
407451104CV3484407single nucleotide variantNM_178148.4(SLC35B2):c.772G>A (p.Gly258Arg)not specified [RCV004672578]uncertain significance64425523344255233Humanname
407451108CV3484408single nucleotide variantNM_178148.4(SLC35B2):c.406C>T (p.Arg136Cys)not specified [RCV004672579]uncertain significance64425559944255599Humanname
407451868CV3484409single nucleotide variantNM_178148.4(SLC35B2):c.985C>T (p.Arg329Cys)not specified [RCV004683689]uncertain significance64425502044255020Humanname
407451116CV3484412single nucleotide variantNM_178148.4(SLC35B2):c.695G>A (p.Arg232Gln)not specified [RCV004672582]uncertain significance64425531044255310Humanname
408394237CV3521851single nucleotide variantNM_178148.4(SLC35B2):c.361G>A (p.Val121Met)Leukodystrophy, hypomyelinating, 26, with chondrodysplasia [RCV004764650]uncertain significance64425564444255644Human1name
597765213CV3603085single nucleotide variantNM_178148.4(SLC35B2):c.668T>C (p.Val223Ala)not specified [RCV004870316]uncertain significance64425533744255337Humanname
597702081CV3603086single nucleotide variantNM_178148.4(SLC35B2):c.986G>C (p.Arg329Pro)not specified [RCV004860056]uncertain significance64425501944255019Humanname
597702092CV3603087single nucleotide variantNM_178148.4(SLC35B2):c.433C>T (p.Pro145Ser)not specified [RCV004860057]uncertain significance64425557244255572Humanname
597765221CV3603090single nucleotide variantNM_178148.4(SLC35B2):c.901C>A (p.Gln301Lys)not specified [RCV004870318]uncertain significance64425510444255104Humanname
597765225CV3603091single nucleotide variantNM_178148.4(SLC35B2):c.455C>T (p.Ser152Leu)not specified [RCV004870319]uncertain significance64425555044255550Humanname
598242609CV3914763single nucleotide variantNM_178148.4(SLC35B2):c.698G>A (p.Arg233His)not specified [RCV005276563]uncertain significance64425530744255307Humanname
598242615CV3914764single nucleotide variantNM_178148.4(SLC35B2):c.980G>A (p.Gly327Glu)not specified [RCV005276564]uncertain significance64425502544255025Humanname
598242625CV3914767single nucleotide variantNM_178148.4(SLC35B2):c.505C>A (p.Leu169Ile)not specified [RCV005276566]uncertain significance64425550044255500Humanname
156144684CV2200181single nucleotide variantNM_178148.4(SLC35B2):c.1057C>A (p.Leu353Ile)not specified [RCV004069747]uncertain significance64425494844254948Humanname
155922044CV2208794single nucleotide variantNM_178148.4(SLC35B2):c.1241G>C (p.Arg414Pro)not specified [RCV004084975]uncertain significance64425476444254764Humanname
156225806CV2215789single nucleotide variantNM_178148.4(SLC35B2):c.1235G>A (p.Arg412Gln)not specified [RCV004096916]uncertain significance64425477044254770Humanname
156157239CV2262385single nucleotide variantNM_178148.4(SLC35B2):c.1211C>G (p.Ala404Gly)not specified [RCV004128834]uncertain significance64425479444254794Humanname
156060934CV2343811single nucleotide variantNM_178148.4(SLC35B2):c.1278G>C (p.Glu426Asp)not specified [RCV004192989]uncertain significance64425472744254727Humanname
156085092CV2390523single nucleotide variantNM_178148.4(SLC35B2):c.1083G>C (p.Gln361His)not specified [RCV004239059]uncertain significance64425492244254922Humanname
156059518CV2391760single nucleotide variantNM_178148.4(SLC35B2):c.1199T>C (p.Val400Ala)not specified [RCV004235642]uncertain significance64425480644254806Humanname
401747794CV2709727single nucleotide variantNM_178148.4(SLC35B2):c.1072A>G (p.Thr358Ala)not specified [RCV004320720]uncertain significance64425493344254933Humanname
401749176CV2731922single nucleotide variantNM_178148.4(SLC35B2):c.1231G>A (p.Ala411Thr)not specified [RCV004333163]uncertain significance64425477444254774Humanname
405784333CV3332703single nucleotide variantNM_178148.4(SLC35B2):c.1085T>A (p.Phe362Tyr)not specified [RCV004459221]uncertain significance64425492044254920Humanname
405784339CV3332704single nucleotide variantNM_178148.4(SLC35B2):c.1096G>A (p.Val366Ile)not specified [RCV004459222]uncertain significance64425490944254909Humanname
405784343CV3332705single nucleotide variantNM_178148.4(SLC35B2):c.1117C>T (p.Leu373Phe)not specified [RCV004459223]uncertain significance64425488844254888Humanname
405784349CV3332706single nucleotide variantNM_178148.4(SLC35B2):c.1252C>T (p.Arg418Trp)not specified [RCV004459224]uncertain significance64425475344254753Humanname
407451111CV3484410single nucleotide variantNM_178148.4(SLC35B2):c.1240C>G (p.Arg414Gly)not specified [RCV004672580]uncertain significance64425476544254765Humanname
597765210CV3603083single nucleotide variantNM_178148.4(SLC35B2):c.1237G>T (p.Gly413Cys)not specified [RCV004870315]uncertain significance64425476844254768Humanname
597765217CV3603089single nucleotide variantNM_178148.4(SLC35B2):c.1276G>C (p.Glu426Gln)not specified [RCV004870317]uncertain significance64425472944254729Humanname
598242604CV3914762single nucleotide variantNM_178148.4(SLC35B2):c.1240C>T (p.Arg414Cys)not specified [RCV005276562]uncertain significance64425476544254765Humanname
598237118CV3914765single nucleotide variantNM_178148.4(SLC35B2):c.1112T>C (p.Met371Thr)not specified [RCV005275594]uncertain significance64425489344254893Humanname
598242621CV3914766single nucleotide variantNM_178148.4(SLC35B2):c.1056G>C (p.Gln352His)not specified [RCV005276565]uncertain significance64425494944254949Humanname
15122196CV710541single nucleotide variantNM_178148.4(SLC35B2):c.1024C>G (p.Leu342Val)not provided [RCV000963032]benign64425498144254981Humanname
405853272CV3392845deletionNM_178148.4(SLC35B2):c.665_666del (p.Pro222fs)not specified [RCV004526571]uncertain significance64425533944255340Humanname
243057414CV2417697microsatelliteNM_178148.4(SLC35B2):c.1224_1225del (p.Arg408fs)Leukodystrophy, hypomyelinating, 26, with chondrodysplasia [RCV003152568]pathogenic64425478044254781Humanname
40889540CV972618deletionNM_178148.4(SLC35B2):c.1218_1220del (p.Leu407del)Leukodystrophy, hypomyelinating, 26, with chondrodysplasia [RCV003152620]|Primary bone dysplasia with multiple joint dislocations [RCV001264615]pathogenic64425478544254787Human2name