SLC45A2 solute carrier family 45 member 2

Canonical transcript: NM_016180

181 unique variant annotations were identified in 341 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
5-33944729-T-G c.*24A>C - 3-UTRSNV 7/7 - 1
5-33944773-AA-A c.1575del p.Phe525Leufs*13 Frameshift 7/7 - 1
5-33944779-C-T c.1567G>A p.Ala523Thr Missense 7/7 - 1
5-33944814-G-A c.1532C>T p.Ala511Val Missense 7/7 - 2
5-33944814-G-T c.1532C>A p.Ala511Glu Missense 7/7 - 2
5-33944827-C-G c.1519G>C p.Val507Leu Missense 7/7 - 5
5-33944827-C-T c.1519G>A p.Val507Met Missense 7/7 - 1
5-33944844-G-T c.1502C>A p.Ala501Asp Missense 7/7 - 3
5-33944848-T-C c.1498A>G p.Thr500Ala Missense 7/7 - 1
5-33944848-T-G c.1498A>C p.Thr500Pro Missense 7/7 - 3
5-33944855-CAG-TTT c.1489_1491delinsAAA p.Leu497Lys Missense 7/7 - 1
5-33944868-C-T c.1478G>A p.Gly493Asp Missense 7/7 - 1
5-33944875-C-T c.1471G>A p.Gly491Arg Missense 7/7 - 1
5-33944887-G-A c.1459C>T p.Gln487* Nonsense 7/7 - 2
5-33944889-G-A c.1457C>T p.Ala486Val Missense 7/7 - 3
5-33944890-C-T c.1456G>A p.Ala486Thr Missense 7/7 - 1
5-33944916-G-A c.1430C>T p.Ala477Val Missense 7/7 - 5
5-33944917-C-T c.1429G>A p.Ala477Thr Missense 7/7 - 3
5-33944928-C-T c.1418G>A p.Gly473Asp Missense 7/7 - 1
5-33944929-C-T c.1417G>A p.Gly473Ser Missense 7/7 - 1
5-33944941-AC-A c.1405del p.Val469* Frameshift 7/7 - 1
5-33944971-G-A c.1375C>T p.Gln459* Nonsense 7/7 - 1
5-33945758-C-T c.1369-781G>A - IntronicSNV - 6/6 3
5-33945801-A-T c.1369-824T>A - IntronicSNV - 6/6 1
5-33946143-A-C c.1368+1125T>G - IntronicSNV - 6/6 2
5-33946143-A-G c.1368+1125T>C - IntronicSNV - 6/6 2
5-33946143-A-T c.1368+1125T>A - IntronicSNV - 6/6 2
5-33946555-A-G c.1368+713T>C - IntronicSNV - 6/6 1
5-33946571-A-C c.1368+697T>G - IntronicSNV - 6/6 16
5-33946571-A-G c.1368+697T>C - IntronicSNV - 6/6 16
5-33947279-C-A c.1357G>T p.Glu453* Nonsense 6/7 - 1
5-33947306-T-TT c.1331dup p.Asn444Lysfs*5 Frameshift 6/7 - 1
5-33947318-T-C c.1318A>G p.Thr440Ala Missense 6/7 - 2
5-33947327-T-C c.1309A>G p.Thr437Ala Missense 6/7 - 2
5-33947332-G-T c.1304C>A p.Ser435Tyr Missense 6/7 - 1
5-33947333-A-G c.1303T>C p.Ser435Pro Missense 6/7 - 1
5-33947342-C-A c.1294G>T p.Gly432Cys Missense 6/7 - 1
5-33947356-A-G c.1280T>C p.Leu427Pro Missense 6/7 - 2
5-33947380-G-A c.1256C>T p.Pro419Leu Missense 6/7 - 1
5-33947410-C-T c.1226G>A p.Gly409Asp Missense 6/7 - 2
5-33947426-C-T c.1210G>A p.Gly404Arg Missense 6/7 - 1
5-33947433-G-C c.1203C>G p.Tyr401* Nonsense 6/7 - 1
5-33947433-G-T c.1203C>A p.Tyr401* Nonsense 6/7 - 1
5-33947446-AA-GC c.1189_1190delinsGC p.Leu397Ala Missense 6/7 - 1
5-33947471-T-A c.1165A>T p.Lys389* Nonsense 6/7 - 1
5-33947544-C-A c.1157-65G>T - IntronicSNV - 5/6 2
5-33947710-C-T c.1157-231G>A - IntronicSNV - 5/6 1
5-33948319-T-C c.1157-840A>G - IntronicSNV - 5/6 5
5-33948589-T-C c.1157-1110A>G - IntronicSNV - 5/6 12
5-33949735-C-G c.1156+1924G>C - IntronicSNV - 5/6 1
5-33950297-A-C c.1156+1362T>G - IntronicSNV - 5/6 1
5-33950451-T-A c.1156+1208A>T - IntronicSNV - 5/6 1
5-33950703-A-G c.1156+956T>C - IntronicSNV - 5/6 9
5-33951116-G-T c.1156+543C>A - IntronicSNV - 5/6 8
5-33951241-G-C c.1156+418C>G - IntronicSNV - 5/6 1
5-33951551-A-G c.1156+108T>C - IntronicSNV - 5/6 1
5-33951655-CTTAC-C c.1156+3_1156+6del - IntronicDeletion - 5/6 1
5-33951693-C-A c.1122G>T p.Leu374Phe Missense 5/7 - 209
5-33951693-C-G c.1122G>C p.Leu374Phe Missense 5/7 - 209
5-33951697-C-T c.1118G>A p.Gly373Asp Missense 5/7 - 1
5-33951707-C-G c.1108G>C p.Gly370Arg Missense 5/7 - 2
5-33951713-C-T c.1102G>A p.Glu368Lys Missense 5/7 - 1
5-33951716-C-T c.1099G>A p.Val367Ile Missense 5/7 - 1
5-33951733-A-G c.1082T>C p.Leu361Pro Missense 5/7 - 2
5-33951770-C-T c.1045G>A p.Gly349Arg Missense 5/7 - 3
5-33951773-G-A c.1042C>T p.Arg348Cys Missense 5/7 - 1
5-33951784-T-A c.1033-2A>T - IntronicSNV - 4/6 1
5-33951826-G-T c.1033-44C>A - IntronicSNV - 4/6 1
5-33952106-C-T c.1033-324G>A - IntronicSNV - 4/6 3
5-33952378-G-C c.1033-596C>G - IntronicSNV - 4/6 5
5-33954465-C-A c.1032+1G>T - IntronicSNV - 4/6 1
5-33954467-T-C c.1031A>G p.Gln344Arg Missense 4/7 - 1
5-33954475-G-A c.1023C>T p.Phe341Phe Synonymous 4/7 - 1
5-33954494-A-C c.1004T>G p.Met335Arg Missense 4/7 - 2
5-33954511-CT-C c.987del p.Ala330Profs*68 Frameshift 4/7 - 1
5-33954511-CTGTC-C c.985_988del p.Thr329Profs*68 Frameshift 4/7 - 1
5-33954511-T-A c.987A>T p.Thr329Thr Synonymous 4/7 - 5
5-33954511-T-C c.987A>G p.Thr329Thr Synonymous 4/7 - 15
5-33954511-T-G c.987A>C p.Thr329Thr Synonymous 4/7 - 5
5-33954524-A-G c.974T>C p.Leu325Pro Missense 4/7 - 1
5-33954548-T-C c.950A>G p.Tyr317Cys Missense 4/7 - 2
5-33954588-T-C c.910A>G p.Lys304Glu Missense 4/7 - 1
5-33954594-T-A c.904A>T p.Thr302Ser Missense 4/7 - 1
5-33954594-T-C c.904A>G p.Thr302Ala Missense 4/7 - 1
5-33954602-C-T c.896G>A p.Arg299Lys Missense 4/7 - 1
5-33954606-G-A c.892C>T p.Arg298Cys Missense 4/7 - 1
5-33954608-G-A c.890C>T p.Thr297Ile Missense 4/7 - 1
5-33954880-G-A c.889-271C>T - IntronicSNV - 3/6 5
5-33954880-G-T c.889-271C>A - IntronicSNV - 3/6 5
5-33955252-T-C c.889-643A>G - IntronicSNV - 3/6 1
5-33955326-C-A c.889-717G>T - IntronicSNV - 3/6 11
5-33955673-T-C c.889-1064A>G - IntronicSNV - 3/6 30
5-33958910-A-C c.889-4301T>G - IntronicSNV - 3/6 2
5-33958910-A-T c.889-4301T>A - IntronicSNV - 3/6 2
5-33958959-C-A c.889-4350G>T - IntronicSNV - 3/6 55
5-33962770-G-A c.888+1026C>T - IntronicSNV - 3/6 3
5-33962877-T-C c.888+919A>G - IntronicSNV - 3/6 1
5-33963814-TGTTT-T c.870_873del p.Asn290Lysfs*11 Frameshift 3/7 - 1
5-33963840-C-A c.844G>T p.Glu282* Nonsense 3/7 - 1
5-33963850-G-C c.834C>G p.Tyr278* Nonsense 3/7 - 3
5-33963870-C-T c.814G>A p.Glu272Lys Missense 3/7 - 52
5-33963886-G-C c.798C>G p.Tyr266* Nonsense 3/7 - 1
5-33963914-T-G c.770A>C p.Asp257Ala Missense 3/7 - 1
5-33963935-G-A c.749C>T p.Pro250Leu Missense 3/7 - 2
5-33963945-T-A c.739A>T p.Lys247* Nonsense 3/7 - 1
5-33963985-A-T c.699T>A p.His233Gln Missense 3/7 - 1
5-33963998-C-T c.686G>A p.Cys229Tyr Missense 3/7 - 3
5-33964019-G-T c.665C>A p.Ser222Tyr Missense 3/7 - 1
5-33964027-AGAA-A c.662_664del p.Phe221del InFrameDeletion 3/7 - 1
5-33964065-G-C c.619C>G p.Leu207Val Missense 3/7 - 1
5-33964070-A-T c.614T>A p.Leu205Gln Missense 3/7 - 1
5-33964078-C-G c.606G>C p.Trp202Cys Missense 3/7 - 3
5-33964091-C-T c.593G>A p.Gly198Asp Missense 3/7 - 2
5-33964109-GC-TG c.574_575delinsCA p.Ala192His Missense 3/7 - 1
5-33964121-C-A c.563G>T p.Gly188Val Missense 3/7 - 3
5-33964210-T-A c.563-89A>T - IntronicSNV - 2/6 7
5-33964210-T-G c.563-89A>C - IntronicSNV - 2/6 7
5-33964938-C-T c.563-817G>A - IntronicSNV - 2/6 2
5-33965633-T-C c.563-1512A>G - IntronicSNV - 2/6 1
5-33967145-C-G c.563-3024G>C - IntronicSNV - 2/6 4
5-33968890-G-A c.563-4769C>T - IntronicSNV - 2/6 1
5-33969628-T-C c.563-5507A>G - IntronicSNV - 2/6 6
5-33969694-G-A c.563-5573C>T - IntronicSNV - 2/6 3
5-33970006-A-G c.563-5885T>C - IntronicSNV - 2/6 2
5-33971037-A-G c.563-6916T>C - IntronicSNV - 2/6 1
5-33972531-A-C c.563-8410T>G - IntronicSNV - 2/6 2
5-33973175-T-C c.563-9054A>G - IntronicSNV - 2/6 1
5-33974742-C-T c.562+7599G>A - IntronicSNV - 2/6 2
5-33978188-A-G c.562+4153T>C - IntronicSNV - 2/6 2
5-33982352-G-A c.551C>T p.Ala184Val Missense 2/7 - 1
5-33982374-C-A c.529G>T p.Glu177* Nonsense 2/7 - 1
5-33982425-C-G c.478G>C p.Asp160His Missense 2/7 - 5
5-33982434-C-T c.469G>A p.Asp157Asn Missense 2/7 - 8
5-33982446-C-T c.457G>A p.Asp153Asn Missense 2/7 - 6
5-33982451-A-G c.452T>C p.Leu151Pro Missense 2/7 - 1
5-33982460-C-T c.443G>A p.Gly148Asp Missense 2/7 - 1
5-33982474-A-C c.429T>G p.Ser143Arg Missense 2/7 - 1
5-33982474-A-T c.429T>A p.Ser143Arg Missense 2/7 - 1
5-33982476-T-G c.427A>C p.Ser143Arg Missense 2/7 - 1
5-33982518-C-T c.386-1G>A - IntronicSNV - 1/6 1
5-33982568-G-A c.386-51C>T - IntronicSNV - 1/6 3
5-33983044-A-G c.386-527T>C - IntronicSNV - 1/6 3
5-33983189-A-G c.386-672T>C - IntronicSNV - 1/6 2
5-33983189-A-T c.386-672T>A - IntronicSNV - 1/6 2
5-33984312-A-T c.377T>A p.Val126Asp Missense 1/7 - 2
5-33984313-C-T c.376G>A p.Val126Ile Missense 1/7 - 1
5-33984314-A-T c.375T>A p.Thr125Thr Synonymous 1/7 - 1
5-33984361-C-T c.328G>A p.Gly110Arg Missense 1/7 - 2
5-33984379-G-A c.310C>T p.Pro104Ser Missense 1/7 - 1
5-33984385-G-A c.304C>T p.Arg102Trp Missense 1/7 - 1
5-33984388-G-A c.301C>T p.Arg101Cys Missense 1/7 - 2
5-33984391-C-T c.298G>A p.Gly100Ser Missense 1/7 - 2
5-33984409-G-C c.280C>G p.His94Asp Missense 1/7 - 1
5-33984412-C-T c.277G>A p.Asp93Asn Missense 1/7 - 4
5-33984424-C-T c.265G>A p.Gly89Arg Missense 1/7 - 1
5-33984425-CG-C c.264del p.Gly89Aspfs*24 Frameshift 1/7 - 1
5-33984438-A-G c.251T>C p.Leu84Pro Missense 1/7 - 1
5-33984456-G-A c.233C>T p.Pro78Leu Missense 1/7 - 1
5-33984459-C-T c.230G>A p.Ser77Asn Missense 1/7 - 1
5-33984481-A-G c.208T>C p.Tyr70His Missense 1/7 - 1
5-33984499-C-T c.190G>A p.Gly64Ser Missense 1/7 - 1
5-33984510-A-C c.179T>G p.Leu60Arg Missense 1/7 - 1
5-33984515-CTGGGGT-C c.169_174del p.Thr57_Pro58del InFrameDeletion 1/7 - 1
5-33984517-G-A c.172C>T p.Pro58Ser Missense 1/7 - 2
5-33984517-G-C c.172C>G p.Pro58Ala Missense 1/7 - 1
5-33984522-A-G c.167T>C p.Val56Ala Missense 1/7 - 1
5-33984527-C-CCTGCCTCCACC c.162_163insGTGGAGGCAGG p.Tyr55Valfs*6 Frameshift 1/7 - 1
5-33984539-C-CCACCC c.151_152insGTGGG p.Val51Glyfs*8 Frameshift 1/7 - 1
5-33984543-T-A c.146A>T p.Tyr49Phe Missense 1/7 - 1
5-33984543-T-C c.146A>G p.Tyr49Cys Missense 1/7 - 1
5-33984555-CT-CA c.133delinsT p.Arg45* Missense 1/7 - 1
5-33984556-T-C c.133A>G p.Arg45Gly Missense 1/7 - 1
5-33984559-C-T c.130G>A p.Gly44Arg Missense 1/7 - 2
5-33984563-C-A c.126G>T p.Met42Ile Missense 1/7 - 1
5-33984563-C-T c.126G>A p.Met42Ile Missense 1/7 - 1
5-33984564-A-G c.125T>C p.Met42Thr Missense 1/7 - 1
5-33984576-T-C c.113A>G p.His38Arg Missense 1/7 - 1
5-33984600-CT-CA c.88delinsT p.Arg30* Missense 1/7 - 1
5-33984646-A-C c.43T>G p.Ser15Ala Missense 1/7 - 1
5-33984657-TG-GC c.31_32delinsGC p.His11Ala Missense 1/7 - 1
5-33984660-CG-AC c.28_29delinsGT p.Arg10Val Missense 1/7 - 1