Transcript #00003781 (NM_000065.2, C6 gene)

Transcript name transcript variant 1
Gene name C6 (complement component 6)
Chromosome 5
Transcript - NCBI ID NM_000065.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000056.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

91 entries on 1 page. Showing entries 1 - 91.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.10C>T r.(?) p.(Arg4Cys)
-?/. - c.10C>T r.(?) p.(Arg4Cys)
?/. - c.76C>A r.(?) p.(His26Asn)
?/. - c.76C>A r.(?) p.(His26Asn)
-?/. - c.186A>C r.(?) p.(Glu62Asp)
-/. - c.356C>A r.(?) p.(Ala119Glu)
-/. - c.356C>A r.(?) p.(Ala119Glu)
-?/. - c.411G>T r.(?) p.(Glu137Asp)
-?/. - c.445+9T>C r.(=) p.(=)
-?/. - c.468A>G r.(?) p.(Leu156=)
-/. - c.678A>C r.(?) p.(Thr226=)
-?/. - c.699G>A r.(?) p.(Pro233=)
-?/. - c.712A>C r.(?) p.(Asn238His)
?/. - c.848T>G r.(?) p.(Ile283Ser)
-?/. - c.906C>T r.(?) p.(Ala302=)
?/. - c.955G>A r.(?) p.(Val319Met)
?/. - c.1075G>A r.(?) p.(Asp359Asn)
-?/. - c.1120G>A r.(?) p.(Val374Met)
+/. - c.1138del r.(?) p.(Gln380SerfsTer7)
-?/. - c.1169-4C>T r.spl? p.?
-?/. - c.1176C>T r.(?) p.(Thr392=)
-?/. - c.1221C>T r.(?) p.(Arg407=)
?/. - c.1267A>C r.(?) p.(Asn423His)
-/. - c.1300A>G r.(?) p.(Ile434Val)
?/. - c.1498G>T r.(?) p.(Ala500Ser)
?/. - c.1498G>T r.(?) p.(Ala500Ser)
?/. - c.1594C>T r.(?) p.(Pro532Ser)
?/. - c.1696G>A r.(?) p.(Gly566Arg)
-?/. - c.1728C>T r.(?) p.(Thr576=)
?/. - c.1792G>C r.(?) p.(Gly598Arg)
-?/. - c.1798C>T r.(?) p.(Arg600Cys)
?/. - c.1848G>A r.(?) p.(Met616Ile)
?/. - c.1848G>A r.(?) p.(Met616Ile)
?/. - c.1848G>A r.(?) p.(Met616Ile)
?/. - c.1848G>A r.(?) p.(Met616Ile)
?/. - c.1848G>A r.(?) p.(Met616Ile)
?/. - c.1848G>A r.(?) p.(Met616Ile)
?/. - c.1848G>A r.(?) p.(Met616Ile)
?/. - c.1848G>A r.(?) p.(Met616Ile)
?/. - c.1848G>A r.(?) p.(Met616Ile)
?/. - c.1848G>A r.(?) p.(Met616Ile)
?/. - c.1848G>A r.(?) p.(Met616Ile)
?/. - c.1848G>A r.(?) p.(Met616Ile)
?/. - c.1848G>A r.(?) p.(Met616Ile)
?/. - c.1848G>A r.(?) p.(Met616Ile)
?/. - c.1848G>A r.(?) p.(Met616Ile)
?/. - c.1848G>A r.(?) p.(Met616Ile)
?/. - c.1848G>A r.(?) p.(Met616Ile)
?/. - c.1848G>A r.(?) p.(Met616Ile)
?/. - c.1848G>A r.(?) p.(Met616Ile)
?/. - c.1848G>A r.(?) p.(Met616Ile)
-/. - c.1881= r.(=) p.(Asp627=)
-/. - c.1881= r.(=) p.(Asp627=)
-?/. - c.1897G>A r.(?) p.(Val633Ile)
?/. - c.1967G>A r.(?) p.(Arg656Gln)
?/. - c.1967G>A r.(?) p.(Arg656Gln)
-?/. - c.2067C>T r.(?) p.(Asp689=)
-/. - c.2067C>T r.(?) p.(Asp689=)
?/. - c.2197C>T r.(?) p.(Pro733Ser)
?/. - c.2239C>T r.(?) p.(Gln747*)
-?/. - c.2296C>T r.(?) p.(Leu766=)
+?/. - c.2381+2T>C r.spl? p.?
+/. - c.2381+2T>C r.spl? p.?
+?/. - c.2381+2T>C r.spl? p.?
+?/. - c.2381+2T>C r.spl? p.?
?/. - c.2381+2T>C r.spl? p.?
-?/. - c.2518G>A r.(?) p.(Gly840Ser)
-?/. - c.2518G>A r.(?) p.(Gly840Ser)
-?/. - c.2519G>T r.(?) p.(Gly840Val)
-?/. - c.2523C>T r.(?) p.(Arg841=)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
?/. - c.2800G>A r.(?) p.(Ala934Thr)
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