Transcript #00014262 (NM_153006.2, NAGS gene)

Transcript name N-acetylglutamate synthase
Gene name NAGS (N-acetylglutamate synthase)
Chromosome 17
Transcript - NCBI ID NM_153006.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_694551.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

79 entries on 1 page. Showing entries 1 - 79.
Legend   How to query  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. _1_7_ c.-88445_*167307dup r.? p.?
+/. 1 c.-3064C>A r.(=) p.(=)
-/. 1 c.55C>T r.(?) p.(Leu19Leu )
-/. - c.182A>G r.(?) p.(Glu61Gly)
+/. 1 c.278del r.(?) p.(Pro93Glnfs*18)
-/. 1 c.374C>A r.(?) p.(Thr125Lys)
-/. - c.426+19G>A r.(=) p.(=)
?/. 2 c.499A>G r.(?) p.(Met167Val)
+/. 2 c.518T>A r.(?) p.(Val173Glu)
+/. - c.545del r.(?) p.(Ala182Valfs*23)
+/. 2 c.545del r.(?) p.(Ala182Valfs*23)
-?/. - c.572A>G r.(?) p.(Glu191Gly)
?/. 2 c.598T>C r.(?) p.(Cys200Arg)
?/. 2 c.598T>C r.(?) p.(Cys200Arg)
?/. 3 c.706G>T r.(?) p.(Gly236Cys)
?/. 3 c.779C>T r.(?) p.(Pro260Leu)
?/. 3 c.791C>T r.(?) p.(Thr264Met)
?/. 3 c.835G>A r.(?) p.(Ala279Thr)
?/. 3 c.872T>A r.(?) p.(Ile291Asn)
-?/. - c.915+29C>T r.(=) p.(=)
-/. 3i c.916-57C>T r.(?) p.(=)
+/. - c.916-2A>T r.spl p.?
?/. 4 c.935T>C r.(?) p.(Leu312Pro)
+/. - c.971G>A r.(?) p.(Trp324*)
+/. 4 c.971G>A r.(?) p.(Trp324*)
+/. 4 c.971G>A r.(?) p.(Trp324*)
+/. 4 c.991C>T r.(?) p.(Gln331*)
+/. 4 c.1025del r.(?) p.(Arg342Profs*50)
+/. 4 c.1036dup r.(?) p.(His346Profs*10)
?/. 4 c.1048G>A r.(?) p.(Val350Ile)
-/. 4 c.1086T>C r.(?) p.(=)
-/. - c.1086T>C r.(?) p.(Phe362=)
-/. - c.1086T>C r.(?) p.(Phe362=)
-/. - c.1096+20C>G r.(=) p.(=)
-/. - c.1096+20C>G r.(=) p.(=)
-/. - c.1096+20C>G r.(=) p.(=)
-/. 4i c.1096+20C>G r.(?) p.(=)
+?/. - c.1097-1G>C r.spl p.?
?/. 5 c.1172T>G r.(?) p.(Leu391Arg)
?/. 5 c.1192A>T r.(?) p.(Ser398Cys)
+/. 5 c.1228T>C r.(?) p.(Ser410Pro)
+/. 5 c.1228T>C r.(?) p.(Ser410Pro)
+/. 5 c.1241G>C r.(?) p.(Arg414Pro)
+/. 5 c.1264G>T r.(?) p.(Glu422*)
+/. 6 c.1289T>C r.(?) p.(Leu430Pro)
+/. 6 c.1289T>C r.(?) p.(Leu430Pro)
+/. 6 c.1292C>T r.(?) p.(Thr431Ile)
?/. 6 c.1292C>T r.(?) p.(Thr431Ile)
+/. 6 c.1299G>C r.(?) p.(Glu433Asp)
+/. 6 c.1307dup r.(?) p.(Thr439Hisfs*52)
+/. - c.1313del r.(?) p.(Gly438Alafs*10)
+/. - c.1313del r.(?) p.(Gly438Alafs*10)
+/. - c.1313dup r.(?) p.(Thr439Hisfs*52)
?/. 6 c.1324C>G r.(?) p.(Leu442Val)
+?/. 6 c.1370G>A r.(?) p.(Gly457Asp)
-/. - c.1446T>C r.(?) p.(Asn482=)
?/. 6 c.1450T>C r.(?) p.(Trp484Arg)
+/. 6 c.1450T>C r.(?) p.(Trp484Arg)
+/. 6 c.1450T>C r.(?) p.(Trp484Arg)
+/. 6 c.1450T>C r.(?) p.(Trp484Arg)
+/. 6 c.1450T>C r.(?) p.(Trp484Arg)
+/. 6 c.1450T>C r.(?) p.(Trp484Arg)
+/. 6 c.1450T>C r.(?) p.(Trp484Arg)
-/. - c.1451+9T>C r.(=) p.(=)
-/. - c.1451+9T>C r.(=) p.(=)
-/. 6i c.1451+9T>C r.(?) p.(=)
-/. 6i c.1451+10G>A r.(?) p.(=)
+/. - c.1494G>A r.(?) p.(Trp498Ter)
+/. - c.1494G>A r.1494g>a p.Trp498*
+?/. 7 c.1526G>A r.(?) p.(Arg509Gln)
?/. - c.1526G>A r.(?) p.(Arg509Gln)
+?/. 7 c.1535A>G r.(?) p.(Tyr512Cys)
+/. 7 c.1552G>A r.(?) p.(Ala518Thr)
+/. 7 c.1552G>A r.(?) p.(Ala518Thr)
-/. - c.*3C>T r.(=) p.(=)
-/. - c.*3C>T r.(=) p.(=)
-/. - c.*3C>T r.(=) p.(=)
-/. 7 c.*3C>T r.(?) p.(=)
?/. - c.*3415C>T r.(=) p.(=)
Legend   How to query