View transcript #00003156

Transcript name nicotinamide nucleotide adenylyltransferase 1
Gene name NMNAT1 (nicotinamide nucleotide adenylyltransferase 1)
Chromosome 1
Transcript - NCBI ID NM_022787.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_073624.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

9 entries on 1 page. Showing entries 1 - 9.
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Affects function     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
?/? c.25G>A p.? missense_variant - 2/5 probably_damaging(0.928) r.? deleterious(0)
+?/+? c.37G>A p.? missense_variant - 2/5 probably_damaging(1) r.? deleterious(0)
?/? c.451G>T p.? missense_variant - 5/5 possibly_damaging(0.879) r.? deleterious(0.01)
?/? c.457C>G p.(Leu153Val) missense_variant - 5/5 probably_damaging(0.999) r.(?) deleterious(0)
+/+ c.619C>T p.(Arg207Trp) missense_variant - 5/5 benign(0.025) r.(?) tolerated(0.07)
?/? c.710G>T p.(Arg237Leu) missense_variant - 5/5 possibly_damaging(0.758) r.(?) deleterious(0)
+/+ c.769G>A p.(Glu257Lys) missense_variant - 5/5 benign(0.037) r.(?) tolerated(0.24)
?/? c.817A>G p.(Asn273Asp) missense_variant - 5/5 benign(0.193) r.(?) tolerated(0.12)
?/? c.838T>C p.? stop_lost - 5/5 - r.? -
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