Transcript #00000042

Transcript name ATP-binding cassette, sub-family A (ABC1), member 9
Gene name ABCA9 (ATP-binding cassette, sub-family A (ABC1), member 9)
Chromosome 17
Transcript - NCBI ID NM_080283.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_525022.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

331 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-13-15_-13-14insT r.(=) p.(=)
?/? c.-13-12G>A r.(=) p.(=)
?/? c.-9C>T r.(=) p.(=)
?/? c.-7G>A r.(=) p.(=)
?/? c.63C>G r.(=) p.(=)
?/? c.96+38A>G r.(=) p.(=)
?/? c.97-47G>T r.(=) p.(=)
?/? c.133T>C r.(?) p.(Tyr45His)
?/? c.153A>T r.(?) p.(Leu51Phe)
?/? c.160G>A r.(?) p.(Val54Ile)
?/? c.189G>A r.(?) p.(Met63Ile)
?/? c.199C>G r.(?) p.(Arg67Gly)
?/? c.200G>A r.(?) p.(Arg67His)
?/? c.202G>T r.(?) p.(Val68Leu)
?/? c.240T>C r.(=) p.(=)
?/? c.258T>G r.(=) p.(=)
?/? c.276C>A r.(?) p.(Asn92Lys)
?/? c.304+1G>T r.spl? p.?
?/? c.372C>T r.(=) p.(=)
?/? c.399C>T r.(=) p.(=)
?/? c.412T>A r.(?) p.(Leu138Met)
?/? c.416A>G r.(?) p.(Lys139Arg)
?/? c.434G>A r.(?) p.(Arg145Lys)
?/? c.469+42C>T r.(=) p.(=)
?/? c.470-34A>G r.(=) p.(=)
?/? c.470-30C>T r.(=) p.(=)
?/? c.470-29G>A r.(=) p.(=)
?/? c.485del r.(?) p.(Val162Glyfs*5)
?/? c.489T>A r.(?) p.(Asn163Lys)
?/? c.498G>A r.(?) p.(Met166Ile)
?/? c.548_549insC r.(?) p.(Ala184Cysfs*3)
?/? c.551C>T r.(?) p.(Ala184Val)
?/? c.572A>G r.(?) p.(Glu191Gly)
?/? c.573+29A>C r.(=) p.(=)
?/? c.574-46G>A r.(=) p.(=)
?/? c.574-20T>G r.(=) p.(=)
?/? c.596T>G r.(?) p.(Met199Arg)
?/? c.611C>A r.(?) p.(Ser204*)
?/? c.635T>C r.(?) p.(Ile212Thr)
?/? c.739C>T r.(?) p.(Gln247*)
?/? c.758C>T r.(?) p.(Thr253Met)
?/? c.759G>A r.(=) p.(=)
?/? c.785G>A r.(?) p.(Arg262Gln)
?/? c.800+17C>T r.(=) p.(=)
?/? c.800+31G>A r.(=) p.(=)
?/? c.801-51G>T r.(=) p.(=)
?/? c.801-20C>T r.(=) p.(=)
?/? c.801-19G>A r.(=) p.(=)
?/? c.818T>C r.(?) p.(Met273Thr)
?/? c.831C>T r.(=) p.(=)
?/? c.857C>A r.(?) p.(Ala286Asp)
?/? c.861T>C r.(=) p.(=)
?/? c.863T>C r.(?) p.(Ile288Thr)
?/? c.885C>A r.(=) p.(=)
?/? c.886G>A r.(?) p.(Val296Ile)
?/? c.912C>T r.(=) p.(=)
?/? c.937T>C r.(?) p.(Ser313Pro)
?/? c.938C>T r.(?) p.(Ser313Phe)
?/? c.942+2T>C r.spl? p.?
?/? c.942+35T>G r.(=) p.(=)
?/? c.942+38T>C r.(=) p.(=)
?/? c.943-37G>T r.(=) p.(=)
?/? c.964A>G r.(?) p.(Ser322Gly)
?/? c.1058G>A r.(?) p.(Arg353His)
?/? c.1101C>G r.(=) p.(=)
?/? c.1128+13G>A r.(=) p.(=)
?/? c.1128+18A>G r.(=) p.(=)
?/? c.1128+19del r.(=) p.(=)
?/? c.1128+37del r.(=) p.(=)
?/? c.1134A>G r.(?) p.(Ile378Met)
?/? c.1213A>G r.(?) p.(Met405Val)
?/? c.1275C>T r.(=) p.(=)
?/? c.1276G>A r.(?) p.(Ala426Thr)
?/? c.1276+1G>A r.spl? p.?
?/? c.1276+44G>C r.(=) p.(=)
?/? c.1277-40G>A r.(=) p.(=)
?/? c.1277-4A>G r.spl? p.?
?/? c.1338C>T r.(=) p.(=)
?/? c.1356G>A r.(=) p.(=)
?/? c.1434A>G r.(=) p.(=)
?/? c.1445+37C>G r.(=) p.(=)
?/? c.1446-11_1446-10del r.(=) p.(=)
?/? c.1457T>G r.(?) p.(Leu486Arg)
?/? c.1471G>A r.(?) p.(Ala491Thr)
?/? c.1479G>A r.(=) p.(=)
?/? c.1480T>C r.(?) p.(Cys494Arg)
?/? c.1505-43A>C r.(=) p.(=)
?/? c.1505-29G>C r.(=) p.(=)
?/? c.1505-26T>C r.(=) p.(=)
?/? c.1513T>C r.(?) p.(Phe505Leu)
?/? c.1514T>C r.(?) p.(Phe505Ser)
?/? c.1519A>G r.(?) p.(Ile507Val)
?/? c.1547T>C r.(?) p.(Leu516Pro)
?/? c.1549G>T r.(?) p.(Gly517Cys)
?/? c.1615+44T>C r.(=) p.(=)
?/? c.1616-46G>A r.(=) p.(=)
?/? c.1630T>A r.(?) p.(Tyr544Asn)
?/? c.1712_1713insATT r.(?) p.(Gln570_Phe571insLeu)
?/? c.1756A>C r.(?) p.(Ile586Leu)
?/? c.1770G>T r.(?) p.(Leu590Phe)
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