Transcript #00000039

Transcript name ATP-binding cassette, sub-family A (ABC1), member 6
Gene name ABCA6 (ATP-binding cassette, sub-family A (ABC1), member 6)
Chromosome 17
Transcript - NCBI ID NM_080284.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_525023.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-5G>A r.(=) p.(=)
?/? c.15G>A r.(=) p.(=)
?/? c.27T>G r.(?) p.(Tyr9*)
?/? c.64A>C r.(?) p.(Lys22Gln)
?/? c.88_89del r.(?) p.(Ser30Leufs*39)
?/? c.90C>G r.(?) p.(Ser30Arg)
?/? c.96+47G>C r.(=) p.(=)
?/? c.121G>A r.(?) p.(Gly41Arg)
?/? c.138G>A r.(=) p.(=)
?/? c.150C>T r.(=) p.(=)
?/? c.300A>G r.(=) p.(=)
?/? c.301+7G>A r.(=) p.(=)
?/? c.301+17C>T r.(=) p.(=)
?/? c.301+44A>G r.(=) p.(=)
?/? c.321_322del r.(?) p.(Pro108Lysfs*2)
?/? c.327T>C r.(=) p.(=)
?/? c.339G>A r.(?) p.(Met113Ile)
?/? c.342C>T r.(=) p.(=)
?/? c.394A>C r.(?) p.(Thr132Pro)
?/? c.405T>C r.(=) p.(=)
?/? c.436C>T r.(?) p.(Pro146Ser)
?/? c.460+3G>A r.spl? p.?
?/? c.460+12T>C r.(=) p.(=)
?/? c.461-48A>G r.(=) p.(=)
?/? c.461-39G>A r.(=) p.(=)
?/? c.461-35C>T r.(=) p.(=)
?/? c.461-3C>T r.spl? p.?
?/? c.536A>G r.(?) p.(Gln179Arg)
?/? c.560T>C r.(?) p.(Ile187Thr)
?/? c.564+47C>T r.(=) p.(=)
?/? c.585G>A r.(=) p.(=)
?/? c.586A>G r.(?) p.(Met196Val)
?/? c.600G>A r.(?) p.(Met200Ile)
?/? c.640A>G r.(?) p.(Thr214Ala)
?/? c.664A>G r.(?) p.(Met222Val)
?/? c.685C>T r.(?) p.(Leu229Phe)
?/? c.722A>G r.(?) p.(Asn241Ser)
?/? c.791+21G>A r.(=) p.(=)
?/? c.792-8T>C r.(=) p.(=)
?/? c.792-5_792-2del r.spl? p.?
?/? c.844G>A r.(?) p.(Val282Ile)
?/? c.848C>T r.(?) p.(Thr283Ile)
?/? c.881T>C r.(?) p.(Met294Thr)
?/? c.886G>T r.(?) p.(Gly296Cys)
?/? c.887G>T r.(?) p.(Gly296Val)
?/? c.894G>C r.(?) p.(Met298Ile)
?/? c.934-48T>A r.(=) p.(=)
?/? c.986A>G r.(?) p.(Asn329Ser)
?/? c.995T>C r.(?) p.(Val332Ala)
?/? c.1007C>G r.(?) p.(Thr336Ser)
?/? c.1101T>C r.(=) p.(=)
?/? c.1119+7G>T r.(=) p.(=)
?/? c.1119+11A>G r.(=) p.(=)
?/? c.1119+16A>G r.(=) p.(=)
?/? c.1186A>G r.(?) p.(Met396Val)
?/? c.1214del r.(?) p.(Leu405Trpfs*31)
?/? c.1236A>G r.(=) p.(=)
?/? c.1265C>T r.(?) p.(Pro422Leu)
?/? c.1267+3A>G r.spl? p.?
?/? c.1267+7A>G r.(=) p.(=)
?/? c.1267+32A>G r.(=) p.(=)
?/? c.1267+33C>T r.(=) p.(=)
?/? c.1268-50G>A r.(=) p.(=)
?/? c.1268-45C>G r.(=) p.(=)
?/? c.1268-15C>G r.(=) p.(=)
?/? c.1268A>T r.(?) p.(Tyr423Phe)
?/? c.1311A>C r.(=) p.(=)
?/? c.1323C>T r.(=) p.(=)
?/? c.1338T>A r.(=) p.(=)
?/? c.1361A>G r.(?) p.(Glu454Gly)
?/? c.1365C>G r.(?) p.(Ile455Met)
?/? c.1368T>A r.(?) p.(Asp456Glu)
?/? c.1401A>G r.(=) p.(=)
?/? c.1410T>C r.(=) p.(=)
?/? c.1436+26A>G r.(=) p.(=)
?/? c.1469A>G r.(?) p.(Lys490Arg)
?/? c.1496-16T>C r.(=) p.(=)
?/? c.1496-13G>A r.(=) p.(=)
?/? c.1520G>C r.(?) p.(Gly507Ala)
?/? c.1529C>T r.(?) p.(Thr510Met)
?/? c.1530G>A r.(=) p.(=)
?/? c.1544A>G r.(?) p.(His515Arg)
?/? c.1548T>A r.(?) p.(Ser516Arg)
?/? c.1606+4A>T r.spl? p.?
?/? c.1606+42T>C r.(=) p.(=)
?/? c.1606+44G>C r.(=) p.(=)
?/? c.1606+51G>A r.(=) p.(=)
?/? c.1607-43A>G r.(=) p.(=)
?/? c.1607-42A>G r.(=) p.(=)
?/? c.1607-8_1607-4del r.spl? p.?
?/? c.1620C>T r.(=) p.(=)
?/? c.1621T>C r.(?) p.(Tyr541His)
?/? c.1644G>A r.(?) p.(Met548Ile)
?/? c.1677C>T r.(=) p.(=)
?/? c.1678G>A r.(?) p.(Val560Ile)
?/? c.1694A>G r.(?) p.(Asn565Ser)
?/? c.1712_1715del r.(?) p.(Leu571Profs*2)
?/? c.1744A>G r.(?) p.(Lys582Glu)
?/? c.1783-16G>A r.(=) p.(=)
?/? c.1810A>G r.(?) p.(Met604Val)
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