Transcript #00013182

Transcript name L-3-hydroxyproline dehydratase (trans-)
Gene name L3HYPDH (trans-L-3-hydroxyproline dehydratase)
Chromosome 14
Transcript - NCBI ID NM_144581.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_653182.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

28 entries on 1 page. Showing entries 1 - 28.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-244A>G r.(=) p.(=)
./. - c.-183C>T r.(=) p.(=)
./. - c.-19G>A r.(=) p.(=)
./. - c.90G>A r.(=) p.(=)
./. - c.125T>C r.(?) p.(Val42Ala)
./. - c.149A>G r.(?) p.(Lys50Arg)
./. - c.160A>T r.(?) p.(Met54Leu)
./. - c.208C>A r.(=) p.(=)
./. - c.232G>A r.(?) p.(Ala78Thr)
./. - c.345T>G r.(=) p.(=)
./. - c.359T>G r.(?) p.(Leu120Arg)
./. - c.373C>T r.(?) p.(Pro125Ser)
./. - c.412C>T r.(?) p.(Pro138Ser)
./. - c.498G>T r.(=) p.(=)
./. - c.508+110A>C r.(=) p.(=)
./. - c.508+125_508+126del r.(=) p.(=)
./. - c.508+190T>A r.(=) p.(=)
./. - c.509-30A>G r.(=) p.(=)
./. - c.509-25C>G r.(=) p.(=)
./. - c.679-22_679-21insGTTG r.(=) p.(=)
./. - c.939+1227A>G r.(=) p.(=)
./. - c.939+1385A>G r.(=) p.(=)
./. - c.940-1335T>C r.(=) p.(=)
./. - c.940-56C>T r.(=) p.(=)
./. - c.940-9T>A r.(=) p.(=)
./. - c.940-6_940-4del r.spl? p.?
./. - c.944C>T r.(?) p.(Ala315Val)
./. - c.1021A>G r.(?) p.(Ile341Val)
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