View transcript #00000207

Transcript name transcript variant X1
Gene name NDUFS2 (NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase))
Chromosome 1
Transcript - NCBI ID XM_005245208.1
Transcript - Ensembl ID -
Protein - NCBI ID XP_005245265.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

3 entries on 1 page. Showing entries 1 - 3.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
+/+ - 6/13 c.683G>A p.(Arg228Gln) probably_damaging(1) missense_variant - deleterious(0)
+/+ - 6/13 c.686C>A p.(Pro229Gln) probably_damaging(1) missense_variant - deleterious(0)
+/+ - 12/13 c.1237T>C p.(Ser413Pro) probably_damaging(0.998) missense_variant - deleterious(0)
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