View transcript #08151

Transcript name ATPase, Cu++ transporting, alpha polypeptide
Gene name ATP7A (ATPase, Cu++ transporting, alpha polypeptide)
Chromosome X
Transcript - NCBI ID NM_000052.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_000043.3
Protein - Ensembl ID -
Protein - Uniprot ID -


Variants

19 entries on 1 page. Showing entries 1 - 19.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? - c.1543+84_1543+85insT r.(=) p.(=)
?/? - c.1869+162del r.(=) p.(=)
?/? - c.2299G>C r.(?) p.(Val767Leu)
?/? - c.2781+141G>A r.(=) p.(=)
?/? - c.2782-29C>A r.(=) p.(=)
?/? - c.3112-67del r.(=) p.(=)
?/? - c.3112-67T>C r.(=) p.(=)
?/? - c.3659-42G>C r.(=) p.(=)
?/? - c.4048G>A r.(?) p.(Glu1350Lys)
?/? - c.4048G>A r.(?) p.(Glu1350Lys)
?/? - c.4048G>A r.(?) p.(Glu1350Lys)
?/? - c.4048G>A r.(?) p.(Glu1350Lys)
?/? - c.4048G>A r.(?) p.(Glu1350Lys)
?/? - c.4048G>A r.(?) p.(Glu1350Lys)
?/? - c.4048G>A r.(?) p.(Glu1350Lys)
?/? - c.4048G>A r.(?) p.(Glu1350Lys)
?/? - c.4048G>A r.(?) p.(Glu1350Lys)
?/? - c.4048G>A r.(?) p.(Glu1350Lys)
?/? - c.4048G>A r.(?) p.(Glu1350Lys)
Legend