Transcript #00000265

Transcript name transcript variant X1
Gene name PNPT1 (polyribonucleotide nucleotidyltransferase 1)
Chromosome 2
Transcript - NCBI ID XM_005264629.1
Transcript - Ensembl ID -
Protein - NCBI ID XP_005264686.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

15 entries on 1 page. Showing entries 1 - 15.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-29T>C p.(=) - - - -
./. - - c.164-1G>A p.? - - - -
./. - - c.167G>A p.(Arg56His) - - - -
./. - - c.448G>C p.(Glu150Gln) - - - -
./. - - c.520C>A p.(Gln174Lys) - - - -
+/+ - 13/28 c.920A>G p.(Gln307Arg) - missense_variant - -
./. - - c.920A>G p.(Gln307Arg) - - - -
./. - - c.1121C>G p.(Ala374Gly) - - - -
./. - - c.1255G>C p.(Gly419Arg) - - - -
./. - - c.1279G>T p.(Ala427Ser) - - - -
./. - - c.1285G>A p.(Val429Ile) - - - -
./. - - c.1288G>C p.(Ala430Pro) - - - -
./. - - c.1352C>G p.(Thr451Arg) - - - -
./. - - c.1421del p.(Ile474Lysfs*15) - - - -
./. - - c.1897G>T p.(Asp633Tyr) - - - -
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