Transcript #00016991 (NM_021154.3, PSAT1 gene)

Transcript name transcript variant 2
Gene name PSAT1 (phosphoserine aminotransferase 1)
Chromosome 9
Transcript - NCBI ID NM_021154.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_066977.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

35 entries on 1 page. Showing entries 1 - 35.
Legend   How to query  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-12G>C r.(?) p.(=)
+?/. 1 c.1A>G r.(?) p.(Asp2_Met42del)
+/. - c.1A>G r.(?) p.0?
+?/. - c.43G>C r.(?) p.(Ala15Pro)
+/. - c.60+2dup r.spl? p.?
+/. - c.129T>G r.(?) p.(Ser43Arg)
+/. - c.129T>G r.(?) p.(Ser43Arg)
+?/. 3 c.181C>T r.(?) p.(Arg61Trp)
+/. - c.181C>T r.(?) p.(Arg61Trp)
+?/. 4 c.235G>T r.(?) p.(Gly79Trp)
+/. - c.296C>T r.(?) p.(Ala99Val)
+/. - c.296C>T r.(?) p.(Ala99Val)
+/. - c.296C>T r.(?) p.(Ala99Val)
+/. - c.296C>T r.(?) p.(Ala99Val)
+/. - c.296C>T r.(?) p.(Ala99Val)
-/. - c.297T>G r.(?) p.(Ala99=)
+?/. - c.299A>C r.(?) p.(Asp100Ala)
+?/. - c.299A>C r.(?) p.(Asp100Ala)
-?/. - c.393T>C r.(?) p.(Tyr131=)
+?/. - c.420G>A r.(?) p.(Trp140*)
+?/. 5 c.463G>C r.(?) p.(Glu155Gln)
-?/. - c.468G>A r.(?) p.(Thr156=)
-?/. - c.571-19A>T r.(=) p.(=)
-?/. - c.571-4dup r.spl? p.?
-?/. - c.571-4dup r.spl? p.?
+?/. 6 c.733T>C r.(?) p.(Cys245Arg)
-/. - c.741-18T>A r.(=) p.(=)
-?/. - c.793G>A r.(?) p.(Ala265Thr)
+?/. - c.870-1G>T r.spl p.?
+?/. - c.870-1G>T r.spl p.0?
+/. - c.870-1G>T r.spl p.?
?/. - c.899A>G r.(?) p.(Tyr300Cys)
-?/. - c.921C>T r.(?) p.(Asp307=)
+?/. 8 c.956del r.(?) p.(Leu319Trpfs*67)
+/. - c.956del r.(?) p.(Leu319Trpfs*67)
Legend   How to query