Transcript #00001315

Transcript name ATPase, Cu++ transporting, alpha polypeptide
Gene name ATP7A (ATPase, Cu++ transporting, alpha polypeptide)
Chromosome X
Transcript - NCBI ID NM_000052.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000043.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

179 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-21-9041T>C r.(=) p.(=)
?/? c.-21-8971T>A r.(=) p.(=)
?/? c.-21-8948G>A r.(=) p.(=)
?/? c.-21-8935G>T r.(=) p.(=)
?/? c.-21-8928C>A r.(=) p.(=)
?/? c.-21-8864A>G r.(=) p.(=)
?/? c.-21-8831C>A r.(=) p.(=)
?/? c.-21-2755G>A r.(=) p.(=)
?/? c.-21-2682C>T r.(?) p.(Gly234Arg)
?/? c.-21-2666C>T r.(=) p.(=)
?/? c.-21-2631C>A r.(?) p.(Val217Phe)
?/? c.-21-2572A>G r.(?) p.(Val197Ala)
?/? c.-21-2571C>T r.(?) p.(Val197Met)
?/? c.-21-2570A>G r.(=) p.(=)
?/? c.-21-2499G>C r.(?) p.(Pro173Ala)
?/? c.-21-2493T>C r.(?) p.(Ile171Val)
?/? c.-21-2450C>T r.(=) p.(=)
?/? c.-21-2374G>C r.(?) p.(Pro131Arg)
?/? c.-21-2268T>C r.(?) p.(Thr96Ala)
?/? c.-21-2260C>T r.(?) p.(Gly93Glu)
?/? c.-21-2251C>T r.(?) p.(Arg90Gln)
?/? c.-21-2239C>T r.(?) p.(Arg86His)
?/? c.-21-2142T>C r.(?) p.(Ile54Val)
?/? c.-21-2103C>G r.(?) p.(Gly41Arg)
?/? c.-21-2095G>A r.(?) p.(Ala38Val)
?/? c.-21-2087G>A r.(=) p.(=)
?/? c.-21-2061C>T r.(?) p.(Asp27Asn)
?/? c.-21-2057C>A r.(?) p.(Trp25Cys)
?/? c.-21-2043G>A r.(?) p.(Arg21Cys)
?/? c.-21-2035A>G r.(?) p.(Leu18Pro)
?/? c.-21-2019C>T r.(?) p.(Glu13Lys)
?/? c.-21-1953T>C r.(=) p.(=)
?/? c.57C>T r.(=) p.(=)
?/? c.120+15G>A r.(=) p.(=)
?/? c.120+43G>A r.(=) p.(=)
?/? c.125C>T r.(?) p.(Ser42Leu)
?/? c.177A>G r.(=) p.(=)
?/? c.183C>A r.(=) p.(=)
?/? c.282G>A r.(=) p.(=)
?/? c.312A>G r.(=) p.(=)
?/? c.327G>A r.(=) p.(=)
?/? c.400G>A r.(?) p.(Val134Met)
?/? c.491G>A r.(?) p.(Ser164Asn)
?/? c.565A>G r.(?) p.(Ile189Val)
?/? c.610+8G>A r.(=) p.(=)
?/? c.610+19A>G r.(=) p.(=)
?/? c.611-26T>C r.(=) p.(=)
?/? c.760C>G r.(?) p.(Arg254Gly)
?/? c.773C>T r.(?) p.(Thr258Ile)
?/? c.824A>G r.(?) p.(Asn275Ser)
?/? c.880A>T r.(?) p.(Asn294Tyr)
?/? c.909A>G r.(=) p.(=)
?/? c.992T>A r.(?) p.(Leu331Gln)
?/? c.1000G>A r.(?) p.(Ala334Thr)
?/? c.1009G>A r.(?) p.(Ala337Thr)
?/? c.1020G>A r.(=) p.(=)
?/? c.1023G>A r.(=) p.(=)
?/? c.1040T>C r.(?) p.(Ile347Thr)
?/? c.1103T>C r.(?) p.(Leu368Ser)
?/? c.1137T>C r.(=) p.(=)
?/? c.1138G>A r.(?) p.(Val380Met)
?/? c.1152T>C r.(=) p.(=)
?/? c.1156A>G r.(?) p.(Met386Val)
?/? c.1224A>G r.(?) p.(Ile408Met)
?/? c.1270C>T r.(=) p.(=)
?/? c.1290G>A r.(=) p.(=)
?/? c.1313T>C r.(?) p.(Met438Thr)
?/? c.1337-5A>G r.spl? p.?
?/? c.1368G>T r.(?) p.(Gln456His)
?/? c.1370C>T r.(?) p.(Pro457Leu)
?/? c.1375T>C r.(?) p.(Ser459Pro)
?/? c.1377G>A r.(=) p.(=)
?/? c.1385C>T r.(?) p.(Pro462Leu)
?/? c.1396T>C r.(?) p.(Ser466Pro)
?/? c.1415C>T r.(?) p.(Thr472Ile)
?/? c.1516A>G r.(?) p.(Ile506Val)
?/? c.1543+9C>G r.(=) p.(=)
?/? c.1543+47T>G r.(=) p.(=)
?/? c.1544-37A>G r.(=) p.(=)
?/? c.1561G>A r.(?) p.(Val521Met)
?/? c.1574C>G r.(?) p.(Ala525Gly)
?/? c.1677T>G r.(=) p.(=)
?/? c.1707+37_1707+38insG r.(=) p.(=)
?/? c.1707+39del r.(=) p.(=)
?/? c.1707+39dup r.(=) p.(=)
?/? c.1735G>A r.(?) p.(Val579Ile)
?/? c.1749G>A r.(=) p.(=)
?/? c.1768A>G r.(?) p.(Arg590Gly)
?/? c.1788C>A r.(=) p.(=)
?/? c.1802C>A r.(?) p.(Thr601Asn)
?/? c.1811C>T r.(?) p.(Ala604Val)
?/? c.1823A>G r.(?) p.(Tyr608Cys)
?/? c.1870-48A>G r.(=) p.(=)
?/? c.1893G>C r.(?) p.(Leu631Phe)
?/? c.1946+49C>A r.(=) p.(=)
?/? c.1946+51A>C r.(=) p.(=)
?/? c.1946+52_1946+53insT r.(=) p.(=)
?/? c.1947-16A>C r.(=) p.(=)
?/? c.1954C>T r.(?) p.(Arg652Trp)
?/? c.1955G>A r.(?) p.(Arg652Gln)
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