Transcript #00019237 (NM_000441.1, SLC26A4 gene)

Transcript name solute carrier family 26, member 4
Gene name SLC26A4 (solute carrier family 26, member 4)
Chromosome 7
Transcript - NCBI ID NM_000441.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_000432.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 0000-00-00 00:00:00 +00:19 (LMT)
Date last edited N/A


Variants

940 entries on 10 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_3i c.-1288_304+3801del r.0? p.0?
?/. - c.-109G>A r.(?) p.(=)
+/+ 1 c.-103T>C r.(0?) p.(0?)
+/+ 1 c.-103T>C r.(?) p.(=)
+/+ 1 c.-103T>C r.(?) p.(=)
?/. - c.-103T>C r.(?) p.(=)
+/+ 1 c.-103T>C r.(0?) p.(0?)
+/+ 1 c.-103T>C r.(0?) p.(0?)
+/+ 1 c.-103T>C r.(0?) p.(0?)
+/+ 1 c.-103T>C r.(0?) p.(0?)
+/+ 1 c.-103T>C r.(0?) p.(0?)
+/+ 1 c.-103T>C r.(0?) p.(0?)
+/+ 1 c.-103T>C r.(0?) p.(0?)
+/+ 1 c.-103T>C r.(0?) p.(0?)
+/+ 1 c.-103T>C r.(0?) p.(0?)
?/. - c.-103T>C r.(?) p.(=)
-/- 1 c.-66C>G r.(=) p.(=)
-/. - c.-66C>G r.(?) p.(=)
?/? 1 c.-60A>G r.(?) p.(=)
+?/. - c.-3-2A>G r.spl? p.?
+/. - c.2T>C r.(?) p.(Met1?)
+/. - c.2T>C r.(?) p.(Met1?)
+/+ 2 c.2T>C r.(?) p.(Met1?)
+/+ 2 c.2T>C r.(?) p.Met1Thr
+/+ 2 c.2T>C r.(?) p.(Met1?)
+/. - c.2T>G r.(?) p.?
+/. - c.2T>G r,(?) p.(Met1?)
-/. - c.15C>A r.(?) p.(Gly5=)
-?/. - c.17G>T r.(?) p.(Gly6Val)
-?/. - c.28C>A r.(?) p.(Pro10Thr)
+/. - c.42del r.(?) p.(Glu15SerfsTer51)
+/. - c.71G>T r.(?) p.(Arg24Leu)
+/. - c.71G>T r.(?) p.(Arg24Leu)
+?/? 2 c.84C>A r.(?) p.(Ser28Arg)
+/+ 2 c.85G>C r.(?) p.(Glu29Gln)
+/+ 2 c.85G>C r.(?) p.(Glu29Gln)
+/+ 2 c.85G>C r.(?) p.(Glu29Gln)
+/+ 2 c.85G>C r.(?) p.(Glu29Gln)
+/+ 2 c.85G>C r.(?) p.(Glu29Gln)
+/+ 2 c.85G>C r.(?) p.(Glu29Gln)
+/+ 2 c.85G>C r.(85g>c) p.(Glu29Gln)
+/. - c.85G>C r.(?) p.(Glu29Gln)
+/. - c.85G>C r.(?) p.(Glu29Gln)
-?/. - c.135G>T r.(?) p.(Thr45=)
+/. - c.142G>T r.(?) p.(Glu48Ter)
+/. - c.154A>T r.(?) p.(Lys52Ter)
+/. - c.164+1G>C r.spl p.?
+/+ 2i c.164+2T>C r.spl? p.?
+/+ 2i c.165-2A>G r.spl? p.?
+/. - c.170C>A r.(?) p.(Ser57Ter)
-?/. - c.187G>A r.(?) p.(Gly63Ser)
?/. - c.200C>G r.(?) p.(Thr67Ser)
+?/. - c.203T>C r.(?) p.(Leu68Pro)
?/. - c.209C>T r.(?) p.(Pro70Leu)
+/+ 3 c.218del r.(?) p.(Glu73Glyfs*24)
+/. - c.230A>T r,(?) p.(Lys77Ile)
+/. - c.235C>T r,(?) p.(Arg79Ter)
+?/. - c.241A>G r.(?) p.(Lys81Glu)
+/. - c.241A>G r,(?) p.(Lys81Glu)
-/- 3 c.262G>A r.(?) p.(Val88Ile)
+/+ 3 c.279del r.(?) p.(Ser93Argfs*4)
+?/+? 3 c.281C>T r.(?) p.(Thr94Ile)
+/. - c.304G>A r.(?) p.(Gly102Arg)
+?/. - c.304G>C r.(?) p.(Gly102Arg)
+/+ 3i_6i c.304+292_765+2672del r.? p.(Gly102Aspfs*4)
+/+ 3i_6i c.304+292_765+2672del r.? p.(Gly102Aspfs*4)
+?/? 4 c.317C>A r.(?) p.(Ala106Asp)
+?/? 4 c.317C>A r.(?) p.(Ala106Asp)
+?/. - c.317C>T r.(?) p.(Ala106Val)
+/+ 4 c.322del r.(?) p.(Leu108*)
+/+ 4 c.322del r.(?) p.(Leu108*)
?/. - c.334C>T r.(?) p.(Pro112Ser)
?/. - c.347G>A r.(?) p.(Gly116Asp)
?/. - c.347G>A r.(?) p.(Gly116Asp)
+/. 4 c.349C>T r.(?) p.(Leu117Phe)
+/. 4 c.349C>T r.(?) p.(Leu117Phe)
+/. 4 c.349C>T r.(?) p.(Leu117Phe)
+?/? 4 c.367C>T r.(?) p.(Pro123Ser)
+/. - c.370_382del r.(?) p.(Ile124Leufs*17)
+/. - c.387del r,(?) p.(Phe130LeufsTer15)
+?/? 4 c.395C>T r.(?) p.(Thr132Ile)
+/+ 4 c.398C>A r.(?) p.(Ser133*)
?/. - c.404A>G r.(?) p.(His135Arg)
+/+ 4 c.407_411del r.(?) p.(Ile136Serfs*44)
+/. - c.412G>T r.(?) p.(Val138Phe)
+?/. - c.412G>T r.(?) p.(Val138Phe)
+?/. - c.412G>T r.(?) p.(Val138Phe)
+/+ 4 c.412G>T r.(?) p.(Val138Phe)
+/+ 4 c.412G>T r.(?) p.(Val138Phe)
+/+ 4 c.412G>T r.(?) p.(Val138Phe)
+/+ 4 c.412G>T r.(?) p.(Val138Phe)
+/+ 4 c.412G>T r.(?) p.(Val138Phe)
+/+ 4 c.412G>T r.(?) p.(Val138Phe)
+/+ 4 c.412G>T r.(?) p.(Val138Phe)
+/+ 4 c.412G>T r.(?) p.(Val138Phe)
+/+ 4 c.412G>T r.(?) p.(Val138Phe)
+/+ 4 c.412G>T r.(?) p.(Val138Phe)
+?/. 4 c.412G>T r.(?) p.(Val138Phe)
+/. - c.413T>A r.(?) p.(Val138Asp)
+/+ 4 c.414del r.(?) p.(Gly139Aspfs*6)
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