Transcript #00000295

Transcript name serine active site containing 1
Gene name SERAC1 (serine active site containing 1)
Chromosome 6
Transcript - NCBI ID NM_032861.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_116250.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

19 entries on 1 page. Showing entries 1 - 19.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.21C>A p.(Cys7*) - - - -
./. - - c.91A>G p.(Arg31Gly) - - - -
./. - - c.91+6T>C p.(=) - - - -
./. - - c.92-239G>C p.(=) - - - -
./. - - c.92-165C>T p.(=) - - - -
./. - - c.92-13_92-10del p.(=) - - - -
?/? - 4/17 c.202C>T p.(Arg68*) - stop_gained - -
./. - - c.202C>T p.(Arg68*) - - - -
./. - - c.265_265+1insCATG p.? - - - -
./. - - c.442C>T p.(Arg148*) - - - -
?/? - 6/17 c.442C>T p.(Arg148*) - stop_gained - -
./. - - c.660A>G p.(=) - - - -
./. - - c.1084A>T p.(Ile362Phe) - - - -
./. - - c.1167_1170del p.(Gln390Profs*29) - - - -
./. - - c.1403+1G>C p.? - - - -
./. - - c.1435_1437del p.(Leu479del) - - - -
./. - - c.1577G>A p.(Gly526Glu) - - - -
./. - - c.1629_1630insCT p.(Val544Leufs*43) - - - -
./. - - c.1646_1647insATCT p.(Leu550Serfs*19) - - - -
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