Transcript #00001327

Transcript name solute carrier family 6 (neurotransmitter transporter, GABA), member 1
Gene name SLC6A1 (solute carrier family 6 (neurotransmitter transporter, GABA), member 1)
Chromosome 3
Transcript - NCBI ID NM_003042.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_003033.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

43 entries on 1 page. Showing entries 1 - 43.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.6G>A r.(?) p.(Ala2=)
+?/. - c.130C>T r.(?) p.(Arg44Trp)
+/. - c.131G>A r.(?) p.(Arg44Gln)
+/. - c.148_151delinsTCGTGTC r.(?) p.(Arg50_Phe51delinsSerCysLeu)
+/. - c.166T>C r.(?) p.(Ser56Pro)
+?/. - c.205A>G r.(?) p.(Arg69Gly)
+/. - c.283dup r.(?) p.(Val95GlyfsTer112)
+?/. - c.314G>T r.(?) p.(Gly105Val)
+/. - c.336del r.(?) p.(Leu113Ter)
+?/. - c.456C>A r.(?) p.(Tyr152Ter)
-?/. - c.582G>A r.(?) p.(Glu194=)
+?/. - c.631C>T r.(?) p.(Arg211Cys)
-?/. - c.651G>A r.(?) p.(Thr217=)
+/. - c.713_714del r.(?) p.(Lys238SerfsTer43)
./. - c.737A>G r.(?) p.(Tyr246Cys)
-?/. - c.801C>T r.(?) p.(Gly267=)
./. - c.830G>A r.(?) p.(Arg277His)
-?/. - c.846C>T r.(?) p.(Ser282=)
+/. - c.850-1G>C r.spl? p.?
+?/. - c.863C>A r.(?) p.(Ala288Glu)
-?/. - c.885A>T r.(?) p.(Ser295=)
+/. - c.889G>A r.(?) p.(Gly297Arg)
+/. - c.889G>A r.(?) p.(Gly297Arg)
+?/. - c.890G>A r.(?) p.(Gly297Glu)
+?/. - c.893T>C r.(?) p.(Leu298Pro)
?/. - c.913G>T r.(?) p.(Ala305Ser)
+/. - c.1070C>T r.(?) p.(Ala357Val)
-?/. - c.1079-6G>A r.(=) p.(=)
+/. - c.1084G>A r.(?) p.(Gly362Arg)
+?/. - c.1084G>A r.(?) p.(Gly362Arg)
+/. - c.1191+1G>T r.spl? p.?
-?/. - c.1191+18G>A r.(=) p.(=)
-?/. - c.1243C>A r.(?) p.(Leu415Ile)
-?/. - c.1243C>A r.(?) p.(Leu415Ile)
?/. - c.1323+888_1323+889del r.(=) p.(=)
?/. - c.1325G>T r.(?) p.(Gly442Val)
./. - c.1427-4del r.spl? p.?
+?/. - c.1479C>A r.(?) p.(Cys493Ter)
?/. - c.1527G>A r.(?) p.(Ala509=)
?/. - c.1528-7T>A r.(=) p.(=)
+/. - c.1595G>A r.(?) p.(Trp532Ter)
-?/. - c.1696-14C>G r.(=) p.(=)
+?/. - c.1702C>T r.(?) p.(Gln568Ter)
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