Transcript #00016028 (NM_033419.3, PGAP3 gene)

Transcript name post-GPI attachment to proteins 3
Gene name PGAP3 (post-GPI attachment to proteins 3)
Chromosome 17
Transcript - NCBI ID NM_033419.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_219487.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

86 entries on 1 page. Showing entries 1 - 86.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-39951del r.(?) p.(=)
-/. - c.-39770G>C r.(?) p.(=)
-?/. - c.-39429G>A r.(?) p.(=)
-?/. - c.-38874C>T r.(?) p.(=)
-?/. - c.-37694A>C r.(?) p.(=)
?/. - c.-27878G>A r.(?) p.(=)
?/. - c.-27447G>A r.(?) p.(=)
-?/. - c.-27280G>T r.(?) p.(=)
-/. - c.-24448G>A r.(?) p.(=)
-?/. - c.-21866G>C r.(?) p.(=)
-?/. - c.100C>T r.(?) p.(Leu34=)
-?/. - c.124T>G r.(?) p.(Ser42Ala)
?/. - c.200A>G r.(?) p.(Asp67Gly)
+/. - c.275G>A r.(?) p.(Gly92Asp)
+/. 3 c.314C>A r.(?) p.(Pro105Gln)
+/. - c.314C>G r.(?) p.(Pro105Arg)
+/. 2 c.320C>T r.(?) p.(Ser107Leu)
+/. 2 c.320C>T r.(?) p.(Ser107Leu)
+?/. - c.320C>T r.(?) p.(Ser107Leu)
+?/. - c.320C>T r.(?) p.(Ser107Leu)
+?/. - c.320C>T r.(?) p.(Ser107Leu)
+?/. - c.320C>T r.(?) p.(Ser107Leu)
+?/. - c.402dup r.(?) p.(Met135Hisfs*28)
+?/. - c.402dup r.(?) p.(Met135Hisfs*28)
+?/. - c.402dup r.(?) p.(Met135Hisfs*28)
+?/. - c.402dup r.(?) p.(Met135Hisfs*28)
+?/. - c.402dup r.(?) p.(Met135Hisfs*28)
+?/. - c.402dup r.(?) p.(Met135Hisfs*28)
+?/. - c.402dup r.(?) p.(Met135Hisfs*28)
+?/. - c.402dup r.(?) p.(Met135Hisfs*28)
+?/. - c.402dup r.(?) p.(Met135Hisfs*28)
+?/. - c.402dup r.(?) p.(Met135Hisfs*28)
-?/. - c.404T>C r.(?) p.(Met135Thr)
+/. - c.439dup r.(?) p.(Leu147Profs*16)
-?/. - c.495+10C>T r.(=) p.(=)
?/. - c.496-9_496-8insCAGAGTA r.(=) p.(=)
+/. 5 c.507C>A r.(?) p.(Tyr169*)
+/. 5 c.507C>A r.(?) p.(Tyr169*)
+?/. - c.511T>C r.(?) p.(Cys171Arg)
+?/. - c.558-10G>A r.(=) p.(=)
+?/. - c.558-10G>A r.(=) p.(=)
+/. - c.663T>G r.(?) p.(Tyr221Ter)
?/. - c.715_717del r.(?) p.(Trp239del)
+?/. - c.817_820del r.(?) p.(Asp273Serfs*37)
?/. - c.827C>T r.(?) p.(Pro276Leu)
+?/+? - c.827C>T r.(?) p.(Pro276Leu)
+?/. - c.842T>C r.(?) p.(Leu281Pro)
+?/. - c.845A>G r.(?) p.(Asp282Gly)
+?/. - c.845A>G r.(?) p.(Asp282Gly)
+/. - c.850C>T r.(?) p.(His284Tyr)
+/. 7 c.850C>T r.(?) p.(His284Tyr)
+/. 7 c.850C>T r.(?) p.(His284Tyr)
+/. 7 c.850C>T r.(?) p.(His284Tyr)
?/. - c.850C>T r.(?) p.(His284Tyr)
+/. - c.850C>T r.(?) p.(His284Tyr)
+/. - c.850C>T r.(?) p.(His284Tyr)
+/. - c.850C>T r.(?) p.(His284Tyr)
+/. - c.850C>T r.(?) p.(His284Tyr)
+/. - c.850C>T r.(?) p.(His284Tyr)
+/. - c.851A>G r.(?) p.(His284Arg)
+/. - c.851A>G r.(?) p.(His284Arg)
+/. - c.851A>G r.(?) p.(His284Arg)
+/. - c.851A>G r.(?) p.(His284Arg)
+/. - c.851A>G r.(?) p.(His284Arg)
+/. 7 c.851A>G r.(?) p.(His284Arg)
+/. 7 c.851A>G r.(?) p.(His284Arg)
+/. 7 c.851A>G r.(?) p.(His284Arg)
+/. - c.851A>G r.(?) p.(His284Arg)
+/. - c.851A>G r.(?) p.(His284Arg)
+?/. 7 c.851A>G r.(?) p.(His284Arg)
+?/. 7 c.851A>G r.(?) p.(His284Arg)
+?/. - c.861G>T r.(?) p.(Trp287Cys)
+?/. - c.861G>T r.(?) p.(Trp287Cys)
+?/. - c.914A>G r.(?) p.(Asp305Gly)
+?/. - c.914A>G r.(?) p.(Asp305Gly)
+?/. - c.914A>G r.(?) p.(Asp305Gly)
+/. 8 c.914A>G r.(?) p.(Asp305Gly)
+?/. - c.924C>A r.(?) p.(Tyr308*)
+?/. - c.*559C>T r.(=) p.(=)
+?/. - c.*559C>T r.(=) p.(=)
-/. - c.*6299G>T r.(=) p.(=)
-?/. - c.*6317C>G r.(=) p.(=)
-?/. - c.*6495C>A r.(=) p.(=)
-/. - c.*6616A>C r.(=) p.(=)
-?/. - c.*6618C>A r.(=) p.(=)
-?/. - c.*6618C>A r.(=) p.(=)
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