Transcript #00016094 (NM_006623.3, PHGDH gene)

Transcript name phosphoglycerate dehydrogenase
Gene name PHGDH (phosphoglycerate dehydrogenase)
Chromosome 1
Transcript - NCBI ID NM_006623.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_006614.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

36 entries on 1 page. Showing entries 1 - 36.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-140A>G r.(?) p.(=)
-/. - c.-101G>C r.(?) p.(=)
+/. 2 c.160C>T r.(?) p.(Arg54Cys)
?/. - c.161G>A r.(?) p.(Arg54His)
+?/. - c.271_274del r.(?) p.(Lys91Alafs*5)
+?/. 2i c.290+2T>C r.spl p.?
-?/. - c.291-18C>A r.(=) p.(=)
-?/. - c.296C>G r.(?) p.(Pro99Arg)
+?/. 4 c.374C>T r.(?) p.(Thr125Met)
?/. - c.403C>T r.(?) p.(Arg135Trp)
+?/. 5 c.418G>A r.(?) p.(Gly140Arg)
+?/. 5 c.418G>A r.(?) p.(Gly140Arg)
+?/. 5 c.488G>A r.(?) p.(Arg163Gln)
+/. - c.488G>A r.(?) p.(Arg163Gln)
-?/. - c.549G>A r.(?) p.(Ser183=)
-/. - c.595C>G r.(?) p.(Leu199Val)
-/. - c.624T>C r.(?) p.(Pro208=)
?/. - c.638C>T r.(?) p.(Thr213Met)
+?/. 6 c.638C>T r.(?) p.(Thr213Met)
+?/. 7 c.704C>T r.(?) p.(Ala235Val)
+?/. - c.706C>T r.(?) p.(Arg236Cys)
?/. - c.739C>T r.(?) p.(Arg247Trp)
?/. - c.792+6T>C r.(=) p.(=)
-?/. - c.792+6T>G r.(=) p.(=)
-?/. - c.798G>T r.(?) p.(Pro266=)
-?/. - c.946-19G>A r.(=) p.(=)
+/. - c.1117G>A r.(?) p.(Ala373Thr)
+/. - c.1129G>A r.(?) p.(Gly377Ser)
-?/. - c.1158G>T r.(?) p.(Ala386=)
+?/. - c.1169T>A r.(?) p.(Leu390*)
+?/. - c.1286G>T r.(?) p.(Gly429Val)
-/. - c.1326G>A r.(?) p.(Thr442=)
-/. - c.1326G>A r.(?) p.(Thr442=)
-?/. - c.1338G>C r.(?) p.(Gln446His)
?/. - c.1471C>T r.(?) p.(Arg491Trp)
-?/. - c.1559C>A r.(?) p.(Ala520Glu)
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