Transcript #00001198

Transcript name phosphatidylinositol glycan anchor biosynthesis, class K
Gene name PIGK (phosphatidylinositol glycan anchor biosynthesis, class K)
Chromosome 1
Transcript - NCBI ID NM_005482.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_005473.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

19 entries on 1 page. Showing entries 1 - 19.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. - c.94-1G>C r.spl? p.?
+/. - c.97C>T r.(?) p.(Gln33*)
+/. - c.158C>T r.(?) p.Ser53Phe
+/. - c.158C>T r.(?) p.Ser53Phe
?/. - c.239+11150A>G r.(=) p.(=)
?/. - c.239+11150A>G r.(=) p.(=)
+?/. - c.257T>C r.(?) p.(Leu86Pro)
+/. - c.260C>T r.(?) p.(Ala87Val)
+/. - c.260C>T r.(?) p.(Ala87Val)
+?/. - c.262G>A r.(?) p.(Asp88Asn)
+?/. - c.262G>A r.(?) p.(Asp88Asn)
+?/. - c.262G>A r.(?) p.(Asp88Asn)
+/. - c.479A>C r.(?) p.(Tyr160Ser)
+?/. - c.479A>C r.(?) p.(Tyr160Ser)
+?/. - c.479A>C r.(?) p.(Tyr160Ser)
+/. - c.551C>T r.(?) p.(Ala184Val)
+/. - c.737T>A r.(?) p.(Met246Lys)
+/. - c.823T>C r.(?) p.Cys275Arg
+/. - c.823T>C r.(?) p.Cys275Arg
Legend