Transcript #00001309

Transcript name NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
Gene name NDUFAF6 (NADH dehydrogenase (ubiquinone) complex I, assembly factor 6)
Chromosome 8
Transcript - NCBI ID NM_152416.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_689629.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

11 entries on 1 page. Showing entries 1 - 11.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.206A>T r.(?) p.(Asp69Val) - - - -
./. - - c.226T>C r.(?) p.(Ser76Pro) - - - -
./. - - c.296A>G r.(?) p.(Gln99Arg) - - - -
+/+ - 2/11 c.296A>G r.(?) p.(Gln99Arg) - missense_variant,splice_region_variant - -
./. - - c.328G>T r.(?) p.(Gly110*) - - - -
./. - - c.371T>C r.(?) p.(Ile124Thr) - - - -
./. - - c.532G>C r.(?) p.(Ala178Pro) - - - -
./. - - c.611C>T r.(?) p.(Ala204Val) - - - -
./. - - c.719G>T r.(?) p.(Gly240Val) - - - -
./. - - c.805C>G r.(?) p.(His269Asp) - - - -
./. - - c.820A>G r.(?) p.(Arg274Gly) - - - -
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