Transcript #00000464

Transcript name gap junction protein, beta 3, 31kDa, transcript variant 1
Gene name GJB3 (gap junction protein beta 3)
Chromosome 1
Transcript - NCBI ID NM_024009.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_076872.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

15 entries on 1 page. Showing entries 1 - 15.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-25-46A>G r.(=) p.(=)
./. - c.94C>T r.(?) p.(Arg32Trp)
./. - c.187G>A r.(?) p.(Val63Ile)
./. - c.250G>A r.(?) p.(Val84Ile)
./. - c.340G>A r.(?) p.(Ala114Thr)
./. - c.357C>T r.(=) p.(=)
./. - c.477G>A r.(=) p.(=)
./. - c.529T>G r.(?) p.(Tyr177Asp)
./. - c.567C>T r.(=) p.(=)
./. - c.579C>T r.(=) p.(=)
./. - c.598G>A r.(?) p.(Val200Ile)
./. - c.651_662del r.(?) p.(Leu218_Asp221del)
./. - c.798C>T r.(=) p.(=)
./. - c.*43C>A r.(=) p.(=)
./. - c.*53G>A r.(=) p.(=)
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