View transcript #00000093

Transcript name transcript variant 2
Gene name DGUOK (deoxyguanosine kinase)
Chromosome 2
Transcript - NCBI ID NM_080918.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_550440.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

5 entries on 1 page. Showing entries 1 - 5.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
?/? - 3/5 c.287T>C p.(Leu96Pro) probably_damaging(1) missense_variant - deleterious(0)
+/+ - 3/5 c.313C>T p.(Arg105*) - stop_gained - -
+/+ - 3/5 c.425G>A p.(Arg142Lys) probably_damaging(0.999) missense_variant - deleterious(0)
+/+ - - c.444-934G>A p.(=) - - - -
+/+ - 4/5 c.499G>T p.(Asp167Tyr) probably_damaging(0.997) missense_variant - deleterious(0.04)
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