View transcript #08169

Transcript name transcript variant 1
Gene name CHM (choroideremia (Rab escort protein 1))
Chromosome X
Transcript - NCBI ID NM_000390.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000381.1
Protein - Ensembl ID -
Protein - Uniprot ID -


Variants

10 entries on 1 page. Showing entries 1 - 10.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? - c.117-12del r.(=) p.(=)
?/? - c.117-12_117-11insT r.(=) p.(=)
?/? - c.117-12_117-11insT r.(=) p.(=)
?/? - c.265A>T r.(?) p.(Ser89Cys)
?/? - c.265A>T r.(?) p.(Ser89Cys)
?/? - c.351A>G r.(=) p.(=)
?/? - c.351A>G r.(=) p.(=)
?/? - c.1100G>A r.(?) p.(Arg367Gln)
?/? - c.1641G>T r.(=) p.(=)
?/? - c.1641G>T r.(=) p.(=)
Legend