Transcript #00006726

Transcript name transcript variant 2
Gene name GJB1 (gap junction protein, beta 1, 32kDa)
Chromosome X
Transcript - NCBI ID NM_000166.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_000157.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-16-27G>C r.(=) p.(=)
?/? c.-16-22C>T r.(=) p.(=)
?/? c.-6G>A r.(=) p.(=)
?/? c.108G>C r.(=) p.(=)
?/? c.235C>T r.(=) p.(=)
?/? c.261A>G r.(=) p.(=)
?/? c.274G>T r.(?) p.(Ala92Ser)
?/? c.490C>T r.(?) p.(Arg164Trp)
?/? c.507C>T r.(=) p.(=)
?/? c.642C>T r.(=) p.(=)
?/? c.655C>A r.(?) p.(Arg219Ser)
?/? c.671G>A r.(?) p.(Arg224His)
?/? c.704T>G r.(?) p.(Phe235Cys)
?/? c.835C>T r.(?) p.(Arg279Cys)
?/? c.*34C>A r.(=) p.(=)
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