Transcript #00015292

Transcript name transcript variant 1
Gene name MPDU1 (mannose-P-dolichol utilization defect 1)
Chromosome 17
Transcript - NCBI ID NM_004870.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_004861.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

12 entries on 1 page. Showing entries 1 - 12.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-73A>G r.(=) p.(=)
./. - c.-34G>A r.(=) p.(=)
./. - c.302+21C>T r.(=) p.(=)
./. - c.393C>T r.(=) p.(=)
./. - c.403G>C r.(?) p.(Ala135Pro)
./. - c.507+44G>C r.(=) p.(=)
./. - c.507+57_507+59del r.(=) p.(=)
./. - c.618+14C>T r.(=) p.(=)
./. - c.619-31_619-30insGGT r.(=) p.(=)
./. - c.636G>C r.(=) p.(=)
./. - c.673G>A r.(?) p.(Gly225Ser)
./. - c.685G>A r.(?) p.(Ala229Thr)
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