Transcript #00019065 (NM_001126335.1, SLC7A9 gene)

Transcript name transcript variant 2
Gene name SLC7A9 (solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9)
Chromosome 19
Transcript - NCBI ID NM_001126335.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001119807.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

53 entries on 1 page. Showing entries 1 - 53.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-86T>A r.(?) p.(=)
-/. - c.-26+17G>C r.(=) p.(=)
-/. - c.-25-14C>T r.(=) p.(=)
+?/. - c.120G>A r.(?) p.(Val40=)
+/. - c.209C>T r.(?) p.(Ala70Val)
-?/. - c.252G>A r.(?) p.(Ala84=)
+/. - c.313G>A r.(?) p.(Gly105Arg)
+?/. - c.368C>T r.(?) p.(Thr123Met)
?/. - c.368C>T r.(?) p.(Thr123Met)
?/. - c.368C>T r.(?) p.(Thr123Met)
-/. - c.399C>T r.(?) p.(Ser133=)
-/. - c.411T>C r.(?) p.(Cys137=)
-/. - c.425T>C r.(?) p.(Val142Ala)
-/. - c.425T>C r.(?) p.(Val142Ala)
?/. - c.431G>T r.(?) p.(Cys144Phe)
-/. - c.478+10T>C r.(=) p.(=)
-/. - c.478+10T>C r.(=) p.(=)
-/. - c.479-83dup r.(=) p.(=)
+/. - c.479-1G>A r.spl? p.?
-/. - c.507C>T r.(?) p.(Ser169=)
-?/. - c.513G>T r.(?) p.(Arg171=)
+?/. - c.544G>A r.(?) p.(Ala182Thr)
?/. - c.544G>A r.(?) p.(Ala182Thr)
+?/. - c.544G>A r.(?) p.(Ala182Thr)
-?/. - c.573C>A r.(?) p.(Ile191=)
+/. - c.583G>A r.(?) p.(Gly195Arg)
+?/. - c.583G>A r.(?) p.(Gly195Arg)
-/. - c.604+10G>A r.(=) p.(=)
+/. - c.614dup r.(?) p.(Asn206GlufsTer3)
-/. - c.667C>A r.(?) p.(Leu223Met)
-/. - c.667C>A r.(?) p.(Leu223Met)
-/. - c.687C>T r.(?) p.(Leu229=)
-/. - c.687C>T r.(?) p.(Leu229=)
+?/. - c.695A>G r.(?) p.(Tyr232Cys)
?/. - c.695A>G r.(?) p.(Tyr232Cys)
?/. - c.814G>A r.(?) p.(Val272Met)
+?/. - c.829G>A r.(?) p.(Val277Met)
+?/. - c.829G>A r.(?) p.(Val277Met)
-?/. - c.873+17C>T r.(=) p.(=)
-/. - c.972G>A r.(?) p.(Ala324=)
+?/. - c.997C>T r.(?) p.(Arg333Trp)
-?/. - c.1059C>T r.(?) p.(Pro353=)
?/. - c.1060G>A r.(?) p.(Ala354Thr)
-?/. - c.1075-9_1075-6del r.(=) p.(=)
-/. - c.1143C>T r.(?) p.(Ala381=)
-/. - c.1143C>T r.(?) p.(Ala381=)
-?/. - c.1161C>T r.(?) p.(Gly387=)
-?/. - c.1338C>T r.(?) p.(Ser446=)
-/. - c.1365C>T r.(?) p.(Val455=)
-/. - c.1400-129_1400-128dup r.(=) p.(=)
-/. - c.1400-127T>C r.(=) p.(=)
-/. - c.1444C>T r.(?) p.(Pro482Ser)
-/. - c.*79T>C r.(=) p.(=)
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