SLC45A2 solute carrier family 45 member 2

Canonical transcript: NM_016180

107 unique variant annotations were identified in 190 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
5-33944729-T-G c.*24A>C - 3-UTRSNV 7/7 - 1
5-33944814-G-A c.1532C>T p.Ala511Val Missense 7/7 - 1
5-33944814-G-T c.1532C>A p.Ala511Glu Missense 7/7 - 1
5-33944827-C-A c.1519G>T p.Val507Leu Missense 7/7 - 1
5-33944827-C-G c.1519G>C p.Val507Leu Missense 7/7 - 1
5-33944844-G-T c.1502C>A p.Ala501Asp Missense 7/7 - 1
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 - 2
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 - 1
5-33944916-G-A c.1430C>T p.Ala477Val Missense 7/7 - 3
5-33944917-C-T c.1429G>A p.Ala477Thr Missense 7/7 - 1
5-33944929-C-T c.1417G>A p.Gly473Ser Missense 7/7 - 1
5-33945758-C-T c.1369-781G>A - IntronicSNV - 6/6 1
5-33946143-A-C c.1368+1125T>G - IntronicSNV - 6/6 1
5-33946143-A-G c.1368+1125T>C - IntronicSNV - 6/6 1
5-33946143-A-T c.1368+1125T>A - IntronicSNV - 6/6 1
5-33946571-A-C c.1368+697T>G - IntronicSNV - 6/6 9
5-33946571-A-G c.1368+697T>C - IntronicSNV - 6/6 9
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 - 1
5-33947327-T-C c.1309A>G p.Thr437Ala 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 - 1
5-33947410-C-T c.1226G>A p.Gly409Asp Missense 6/7 - 2
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 1
5-33948589-T-C c.1157-1110A>G - IntronicSNV - 5/6 7
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 5
5-33951116-G-T c.1156+543C>A - IntronicSNV - 5/6 6
5-33951241-G-C c.1156+418C>G - IntronicSNV - 5/6 1
5-33951551-A-G c.1156+108T>C - IntronicSNV - 5/6 1
5-33951693-C-A c.1122G>T p.Leu374Phe Missense 5/7 - 144
5-33951693-C-G c.1122G>C p.Leu374Phe Missense 5/7 - 144
5-33951707-C-G c.1108G>C p.Gly370Arg Missense 5/7 - 1
5-33951716-C-T c.1099G>A p.Val367Ile Missense 5/7 - 1
5-33951770-C-T c.1045G>A p.Gly349Arg Missense 5/7 - 1
5-33952378-G-C c.1033-596C>G - IntronicSNV - 4/6 2
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
5-33954494-A-C c.1004T>G p.Met335Arg Missense 4/7 - 1
5-33954511-CT-C c.987del p.Ala330Profs*68 Frameshift 4/7 - 1
5-33954511-T-A c.987A>T p.Thr329Thr Synonymous 4/7 - 3
5-33954511-T-C c.987A>G p.Thr329Thr Synonymous 4/7 - 8
5-33954511-T-G c.987A>C p.Thr329Thr Synonymous 4/7 - 3
5-33954548-T-C c.950A>G p.Tyr317Cys Missense 4/7 - 1
5-33954588-T-C c.910A>G p.Lys304Glu Missense 4/7 - 1
5-33954602-C-T c.896G>A p.Arg299Lys 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 3
5-33954880-G-T c.889-271C>A - IntronicSNV - 3/6 3
5-33955326-C-A c.889-717G>T - IntronicSNV - 3/6 3
5-33955673-T-C c.889-1064A>G - IntronicSNV - 3/6 16
5-33958910-A-C c.889-4301T>G - IntronicSNV - 3/6 1
5-33958910-A-T c.889-4301T>A - IntronicSNV - 3/6 1
5-33958959-C-A c.889-4350G>T - IntronicSNV - 3/6 33
5-33962770-G-A c.888+1026C>T - IntronicSNV - 3/6 3
5-33962877-T-C c.888+919A>G - IntronicSNV - 3/6 1
5-33963840-C-A c.844G>T p.Glu282* Nonsense 3/7 - 1
5-33963850-G-C c.834C>G p.Tyr278* Nonsense 3/7 - 2
5-33963870-C-T c.814G>A p.Glu272Lys Missense 3/7 - 30
5-33963914-T-G c.770A>C p.Asp257Ala Missense 3/7 - 1
5-33963998-C-T c.686G>A p.Cys229Tyr Missense 3/7 - 1
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
5-33964078-C-G c.606G>C p.Trp202Cys Missense 3/7 - 1
5-33964091-C-T c.593G>A p.Gly198Asp Missense 3/7 - 1
5-33964121-C-A c.563G>T p.Gly188Val Missense 3/7 - 2
5-33964210-T-A c.563-89A>T - IntronicSNV - 2/6 4
5-33964210-T-G c.563-89A>C - IntronicSNV - 2/6 4
5-33967145-C-G c.563-3024G>C - IntronicSNV - 2/6 2
5-33969628-T-C c.563-5507A>G - IntronicSNV - 2/6 4
5-33969694-G-A c.563-5573C>T - IntronicSNV - 2/6 1
5-33972531-A-C c.563-8410T>G - IntronicSNV - 2/6 2
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 - 3
5-33982434-C-T c.469G>A p.Asp157Asn Missense 2/7 - 4
5-33982446-C-T c.457G>A p.Asp153Asn Missense 2/7 - 5
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
5-33983044-A-G c.386-527T>C - IntronicSNV - 1/6 1
5-33984312-A-T c.377T>A p.Val126Asp Missense 1/7 - 1
5-33984313-C-T c.376G>A p.Val126Ile Missense 1/7 - 1
5-33984361-C-T c.328G>A p.Gly110Arg Missense 1/7 - 1
5-33984388-G-A c.301C>T p.Arg101Cys Missense 1/7 - 1
5-33984391-C-T c.298G>A p.Gly100Ser Missense 1/7 - 1
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 - 2
5-33984510-A-C c.179T>G p.Leu60Arg Missense 1/7 - 1
5-33984517-G-A c.172C>T p.Pro58Ser 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
5-33984555-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 - 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