Transcript #00014397

Transcript name phosphomannomutase 2
Gene name PMM2 (phosphomannomutase 2)
Chromosome 16
Transcript - NCBI ID NM_000303.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000294.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

41 entries on 1 page. Showing entries 1 - 41.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.67-49T>C r.(=) p.(=)
./. - c.178+142C>A r.(=) p.(=)
./. - c.178+299G>C r.(=) p.(=)
./. - c.178+326G>A r.(=) p.(=)
./. - c.178+327G>A r.(=) p.(=)
./. - c.178+442G>C r.(=) p.(=)
./. - c.178+482G>A r.(=) p.(=)
./. - c.178+593C>G r.(=) p.(=)
./. - c.179-166A>G r.(=) p.(=)
./. - c.179-126A>G r.(=) p.(=)
./. - c.179-22_179-21insT r.(=) p.(=)
./. - c.255+103G>T r.(=) p.(=)
./. - c.255+111A>T r.(=) p.(=)
./. - c.324G>A r.(=) p.(=)
./. - c.347+172C>T r.(=) p.(=)
./. - c.348-59_348-58insATG r.(=) p.(=)
./. - c.422G>A r.(?) p.(Arg141His)
./. - c.447+19T>C r.(=) p.(=)
./. - c.447+22T>A r.(=) p.(=)
./. - c.448-92A>G r.(=) p.(=)
./. - c.448-81C>T r.(=) p.(=)
./. - c.448-30A>C r.(=) p.(=)
./. - c.487A>C r.(?) p.(Lys163Gln)
./. - c.523+3A>G r.spl? p.?
./. - c.523+52T>A r.(=) p.(=)
./. - c.523+139A>G r.(=) p.(=)
./. - c.590A>C r.(?) p.(Glu197Ala)
./. - c.639+19G>C r.(=) p.(=)
./. - c.639+30T>C r.(=) p.(=)
./. - c.639+57A>G r.(=) p.(=)
./. - c.639+62C>T r.(=) p.(=)
./. - c.639+70C>G r.(=) p.(=)
./. - c.639+114C>G r.(=) p.(=)
./. - c.639+177C>A r.(=) p.(=)
./. - c.639+182G>T r.(=) p.(=)
./. - c.640-92_640-91insT r.(=) p.(=)
./. - c.640-46G>A r.(=) p.(=)
./. - c.713G>A r.(?) p.(Arg238His)
./. - c.*17G>A r.(=) p.(=)
./. - c.*27_*28insTATGTGGTTTCGTGAACGATTAATAATTTCAATCGTGAAAGTCGCTGCATGTAATTGACCTGTCGTGAAATCTGT r.(=) p.(=)
./. - c.*91C>T r.(=) p.(=)
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