Transcript #00001768

Transcript name solute carrier family 26, member 3
Gene name SLC26A3 (solute carrier family 26, member 3)
Chromosome 7
Transcript - NCBI ID NM_000111.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000102.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

131 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     
+?/+? _1_1i c.-211-?_-89+?del - r.? p.?
?/? 2 c.119A>G - r.(?) p.(Lys40Arg)
+?/+? 2i c.131+2_131+3ins288 - r.? p.?
?/? 2i c.131+2_131+3insU14569.1 - r.(?) p.(=)
+?/+? 3 c.145_157del - r.(145_157del) p.(Lys49Leufs*8)
?/? 3 c.145_157del - r.(?) p.(Lys49Leufs*8)
./. - c.167_168del - r.(?) p.(Ser56Phefs*14)
+?/+? 3 c.177dup - r.(177dup) p.(Ile60Hisfs*11)
?/? 3 c.203G>A - r.(?) p.(Arg68Gln)
?/? 3 c.269_270insAA - r.(?) p.(Gly91Lysfs*3)
+?/+? 3 c.269_270insAA - r.(269_270insaa) p.(Gly91Lysfs*3)
?/? 3i_8i c.271+?_972-?del - r.(?) p.(Gly91Aspfs*17)
+?/+? 3i_8i c.272-?_971+?del - r.(272_971del) p.(Gly91Aspfs*17)
?/? 4 c.332del - r.(?) p.(Phe111Serfs*4)
+?/+? 4 c.332del - r.(332del) p.(Phe111Serfs*4)
?/? 4 c.332T>C - r.(?) p.(Phe111Ser)
?/? 4 c.344del - r.(?) p.(Ile115Thrfs*19)
+?/+? 4 c.344delT - r.(344delu) p.(Ile115Thrfs*19)
?/? 4 c.357C>T - r.(=) p.(=)
?/? 4 c.358G>A - r.(?) p.(Gly120Ser)
+?/+? 4 c.358G>A - r.(358g>a) p.(Gly120Ser)
?/? 4 c.371A>T - r.(?) p.(His124Leu)
+?/+? 4 c.371A>T - r.(371a>u) p.(His124Leu)
?/? 5 c.386C>T - r.(?) p.(Pro129Leu)
+?/+? 5 c.386C>T - r.(386c>u) p.(Pro129Leu)
?/? 5 c.392C>G - r.(?) p.(Pro131Arg)
+?/+? 5 c.392C>G - r.(392c>g) p.(Pro131Arg)
?/? 5 c.392C>T - r.(?) p.(Pro131Leu)
+?/+? 5 c.392C>T - r.(392c>u) p.(Pro131Leu)
?/? 5 c.392del - r.(?) p.(Pro131Argfs*3)
+?/+? 5 c.392del - r.(392del) p.(Pro131Argfs*3)
+?/+? 5 c.401G>A - r.(?) p.(Ser134Asn)
?/? 5 c.408G>A - r.(?) p.(Met136Ile)
+?/+? 5 c.408G>A - r.(408g>a) p.(Met136Ile)
?/? 5 c.514G>A - r.(?) p.(Glu172Lys)
+?/+? 5 c.525G>C - r.(525g>c) p.(Arg175Ser)
?/? 5 c.559G>T - r.(?) p.(Gly187*)
+?/+? 5 c.559G>T - r.(559g>u) p.(Gly187*)
?/? 5 c.571-2A>G - r.(=) p.(=)
+?/+? 5i c.571-2A>G - r.spl? p.?
?/? 5 c.571-1G>T - r.(=) p.(=)
+?/+? 5i c.571-1G>T - r.spl? p.?
?/? 6 c.610T>G - r.(?) p.(Tyr204Asp)
+?/+? 6 c.610T>G - r.(610u>g) p.(Tyr204Asp)
?/? 6 c.616T>C - r.(?) p.(Ser206Pro)
+?/+? 6 c.616T>C - r.(616u>c) p.(Ser206Pro)
?/? 6 c.659A>C - r.(?) p.(His220Pro)
+?/+? 6 c.659A>C - r.(659a>c) p.(His220Pro)
?/? 6i_8i c.735+?_972-?del - r.(?) p.(Val246Ilefs*8)
+/. 6i_8i c.735+4_735+7delAGTA - r.571_735del p.Leu191_Lys245delinsVal
+?/+? 6i_8i c.736-?_971+?del - r.(736_971del) p.(Val246Ilefs*8)
?/? 8 c.915C>A - r.(?) p.(Tyr305*)
+?/+? 8 c.915C>A - r.(915c>a) p.(Tyr305*)
?/? 8 c.921T>G - r.(?) p.(Cys307Trp)
?/? 8 c.923A>G - r.(?) p.(Asp308Gly)
?/? 8 c.950T>G - r.(?) p.(Val317Gly)
+/+ 8 c.951_953delGGT - r.(951_953delggu) p.(Val318del)
+/. 8i c.971+3_971+4delAA - r.spl? p.?
?/? 9 c.996C>T - r.(=) p.(=)
+?/+? 9 c.1028G>A - r.(1028g>a) p.(Cys343Tyr)
?/? 9 c.1028G>A - r.(?) p.(Cys343Tyr)
+?/+? 9 c.1030_1047delinsGATGCC - r.(1030_1047delinsgaugcc) p.(Phe344_Val349delinsAspAla)
?/? 9 c.1030_1047delinsGATGCC - r.(?) p.(Phe344_Val349delinsAspAla)
+?/+? 9 c.1047+3A>C - r.spl? p.?
+?/+? 10 c.1136G>C - r.(1136g>c) p.(Gly379Ala)
?/? 10 c.1136G>C - r.(?) p.(Gly379Ala)
?/? 10 c.1148_1149del - r.(?) p.(Ile383Serfs*74)
+/+ 10 c.1148_1149delTA - r.(1148_1149delua) p.(Ile383Serfs*74)
+?/+? 10 c.1193C>T - r.(1193c>u) p.(Ser398Phe)
?/? 10 c.1193C>T - r.(?) p.(Ser398Phe)
?/? 11 c.1299G>A - r.(=) p.(=)
+?/+? 11 c.1306C>T - r.(1306c>u) p.(Gln436*)
?/? 11 c.1306C>T - r.(?) p.(Gln436*)
+?/+? 11i c.1312-1G>A - r.spl? p.?
?/? 11 c.1312-1G>A - r.(?) p.(=)
?/? 12 c.1314C>T - r.(=) p.(=)
+?/+? 12 c.1342_1343del - r.(1342_1343del) p.(Leu448Lysfs*9)
?/? 12 c.1342_1343del - r.(?) p.(Leu448Lysfs*9)
+?/+? 12 c.1360C>T - r.(1360c>u) p.(Gln454*)
?/? 12 c.1360C>T - r.(?) p.(Gln454*)
+?/+? 12 c.1362del - r.(1362del) p.(Gln454Hisfs*5)
?/? 12 c.1362del - r.(?) p.(Gln454Hisfs*5)
+?/+? 12 c.1386G>A - r.(1386g>a) p.(Trp462*)
?/? 12 c.1386G>A - r.(?) p.(Trp462*)
+?/+? 12 c.1387C>T - r.(1387c>u) p.(Arg463*)
?/? 12 c.1387C>T - r.(?) p.(Arg463*)
+?/+? 12 c.1403A>T - r.(1403a>u) p.(Asp468Val)
?/? 12 c.1403A>T - r.(?) p.(Asp468Val)
+?/+? 12i c.1408-1G>A - r.spl? p.?
?/? 13 c.1408-1G>C - r.(=) p.(=)
+?/+? 13 c.1487T>G - r.(1487u>g) p.(Leu496Arg)
?/? 13 c.1487T>G - r.(?) p.(Leu496Arg)
?/? 13i c.1515-2del - r.(=) p.(=)
+?/+? 13i c.1515-2delA - r.spl? p.?
?/? 14 c.1517del - r.(?) p.(Pro506Glnfs*30)
+?/+? 14 c.1517delC - r.(1517delc) p.(Pro506Glnfs*30)
+?/+? 14 c.1526_1527delGC - r.(1526_1527delgc) p.(Ser509Asnfs*4)
?/? 14 c.1529C>T - r.(?) p.(Thr510Met)
?/? 14 c.1551_1554del - r.(?) p.(Asn518Serfs*17)
+?/+? 14 c.1551_1554delCAAC - r.(1551_1554delcaac) p.(Asn518Serfs*17)
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