Transcript #00019025 (NM_000453.2, SLC5A5 gene)

Transcript name solute carrier family 5 (sodium iodide symporter), member 5
Gene name SLC5A5 (solute carrier family 5 (sodium iodide symporter), member 5)
Chromosome 19
Transcript - NCBI ID NM_000453.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000444.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

47 entries on 1 page. Showing entries 1 - 47.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. - c.-54C>T r.54c>u p.0
+/. - c.(698+1_840-1)? r.699_839del p.Asp233_Leu280delinsGlu
+/. - c.176T>A r.(?) p.(Val59Glu)
+/. - c.277G>C r.(?) p.(Gly93Arg)
-/. - c.357+18G>T r.(=) p.(=)
+/. - c.371G>A r.(?) p.(Arg124His)
-/. - c.424-12C>A r.(=) p.(=)
+/. 2i_7i c.442_970-162delins564_698+296inv r.(424_969del) p.(Met142_Gln323del)
?/. - c.471C>A r.(?) p.(Asn157Lys)
-/. - c.476-20_476-19insCCTAAC r.(=) p.(=)
-/. - c.476-19G>A r.(=) p.(=)
-/. - c.546C>T r.(?) p.(Gly182=)
-?/. - c.642C>T r.(?) p.(Gly214=)
-/. - c.672G>A r.(?) p.(Gln224=)
+/. - c.799C>G r.799c>g p.Gln267Glu
+/. - c.816C>A r.816c>a p.Cys272*
-/. - c.839+11C>T r.(=) p.(=)
-/. - c.839+13G>A r.(=) p.(=)
-/. - c.861C>T r.(?) p.(Val287=)
?/. - c.862G>A r.(?) p.(Gly288Ser)
?/. - c.862G>A r.(?) p.(Gly288Ser)
-/. - c.1058+8C>T r.(=) p.(=)
+/. - c.1060A>C r.(?)1060a>c p.Thr354Pro
+/. - c.1060A>C r.1060a>c p.Thr354Pro
+/. - c.1060A>C r.(?) p.(Thr354Pro)
+/. - c.1060A>C r.(?) p.(Thr354Pro)
+/. - c.1183G>A r.(?) p.(Gly395Arg)
+/. - c.1206_1211del r.(?) p.(Ala403_Leu404del)
+/. - c.1316_1327delins1329+2_1329+11 r.1316_1330del p.Ala439_Pro443del
-/. - c.1326A>C r.(?) p.(Thr442=)
-/. - c.1329+18A>G r.(=) p.(=)
-/. - c.1330-17G>T r.(=) p.(=)
-/. - c.1330-15C>T r.(=) p.(=)
-/. - c.1330-14G>T r.(=) p.(=)
-?/. - c.1360G>A r.(?) p.(Ala454Thr)
-?/. - c.1418T>C r.(?) p.(Met473Thr)
-/. - c.1507G>A r.(?) p.(Asp503Asn)
-?/. - c.1517G>C r.(?) p.(Arg506Thr)
+/. - c.1593C>G r.[1527_1593del,1593c>g] p.[Ser509Argfs*7,Tyr531*]
-/. - c.1626C>T r.(?) p.(Cys542=)
?/. - c.1626C>T r.(=) p.(=)
?/. - c.1626C>T r.(?) p.(Cys542=)
+/. - c.1628G>A r.(?) p.(Gly543Glu)
-/. - c.1632C>G r.(?) p.(Ala544=)
-/. - c.1652-9G>A r.(=) p.(=)
-/. - c.1652-9G>A r.(=) p.(=)
?/. - c.1664G>A r.(?) p.(Arg555His)
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