Transcript #00005617 (NM_000097.5, CPOX gene)

Transcript name coproporphyrinogen oxidase
Gene name CPOX (coproporphyrinogen oxidase)
Chromosome 3
Transcript - NCBI ID NM_000097.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_000088.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

26 entries on 1 page. Showing entries 1 - 26.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 1 c.32del r.(?) p.(Gly11Alafs*125)
+/. 1 c.32del r.(?) p.(Gly11Alafs*125)
-/. - c.33C>T r.(?) p.(Gly11=)
-/. - c.165C>T r.(?) p.(Gly55=)
?/. - c.178C>G r.(?) p.(Arg60Gly)
-/. - c.337C>T r.(?) p.(Leu113=)
-?/. - c.395C>T r.(?) p.(Ala132Val)
+/. 3 c.717T>A r.(?) p.(Cys239*)
-/. - c.814A>C r.(?) p.(Asn272His)
-/. - c.814A>C r.(?) p.(Asn272His)
-/. - c.814A>C r.(?) p.(Asn272His)
+/. 4 c.823T>C r.(?) p.(Trp275Arg)
-/. - c.880G>A r.(?) p.(Val294Ile)
+/. - c.980A>G r.(?) p.(His327Arg)
-/. - c.990A>G r.(?) p.(Glu330=)
-/. - c.990A>G r.(?) p.(Glu330=)
-/. - c.990A>G r.(?) p.(Glu330=)
+/. 5 c.1006_1008del r.(?) p.(Gly336del)
-/. - c.1054C>T r.(?) p.(Arg352Cys)
-/. - c.1054C>T r.(?) p.(Arg352Cys)
-/. - c.1054C>T r.(?) p.(Arg352Cys)
+/. 5 c.1095C>G r.(?) p.(Tyr365*)
+/. 5 c.1102del r.(?) p.(Val369*)
?/. - c.1277+9A>G r.(=) p.(=)
+/. - c.1339C>T r.(?) p.(Arg447Cys)
+/. - c.1345C>T r.(?) p.(Pro449Ser)
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