Transcript #00000067

Transcript name transcript variant SUR2A
Gene name ABCC9 (ATP-binding cassette, sub-family C (CFTR/MRP), member 9)
Chromosome 12
Transcript - NCBI ID NM_005691.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_005682.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

281 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-11T>C r.(=) p.(=)
?/? c.-9T>C r.(=) p.(=)
?/? c.58C>T r.(=) p.(=)
?/? c.142+2T>C r.spl? p.?
?/? c.142+10C>A r.(=) p.(=)
?/? c.142+15_142+16insA r.(=) p.(=)
?/? c.142+17C>G r.(=) p.(=)
?/? c.142+26T>C r.(=) p.(=)
?/? c.142+42T>C r.(=) p.(=)
?/? c.142+49C>T r.(=) p.(=)
?/? c.143-30T>C r.(=) p.(=)
?/? c.215G>A r.(?) p.(Arg72Lys)
?/? c.284C>T r.(?) p.(Ser95Leu)
?/? c.284+14G>C r.(=) p.(=)
?/? c.284+38C>G r.(=) p.(=)
?/? c.285-51G>T r.(=) p.(=)
?/? c.285-23C>T r.(=) p.(=)
?/? c.285-16G>A r.(=) p.(=)
?/? c.286C>T r.(?) p.(Arg96Trp)
?/? c.305T>C r.(?) p.(Leu102Pro)
?/? c.325G>A r.(?) p.(Val109Met)
?/? c.354G>A r.(=) p.(=)
?/? c.372T>C r.(=) p.(=)
?/? c.406+27T>C r.(=) p.(=)
?/? c.406+38A>C r.(=) p.(=)
?/? c.407-14C>A r.(=) p.(=)
?/? c.407-13T>C r.(=) p.(=)
?/? c.411G>A r.(=) p.(=)
?/? c.437T>A r.(?) p.(Ile146Asn)
?/? c.574-18G>A r.(=) p.(=)
?/? c.574-5C>A r.spl? p.?
?/? c.609G>A r.(=) p.(=)
?/? c.612T>G r.(=) p.(=)
?/? c.764T>C r.(?) p.(Met255Thr)
?/? c.789C>T r.(=) p.(=)
?/? c.798T>C r.(=) p.(=)
?/? c.809A>C r.(?) p.(Glu270Ala)
?/? c.816+11G>A r.(=) p.(=)
?/? c.817-7del r.(=) p.(=)
?/? c.817-7dup r.(=) p.(=)
?/? c.822del r.(?) p.(Val275Leufs*47)
?/? c.853A>G r.(?) p.(Ile285Val)
?/? c.885A>G r.(=) p.(=)
?/? c.918G>A r.(=) p.(=)
?/? c.924T>C r.(=) p.(=)
?/? c.1011+29C>G r.(=) p.(=)
?/? c.1011+51G>T r.(=) p.(=)
?/? c.1012-38C>T r.(=) p.(=)
?/? c.1012-29A>G r.(=) p.(=)
?/? c.1012-26T>A r.(=) p.(=)
?/? c.1012-21C>G r.(=) p.(=)
?/? c.1012-18T>C r.(=) p.(=)
?/? c.1012-14del r.(=) p.(=)
?/? c.1012-13C>A r.(=) p.(=)
?/? c.1023C>G r.(=) p.(=)
?/? c.1050C>T r.(=) p.(=)
?/? c.1051G>T r.(?) p.(Ala351Ser)
?/? c.1056C>T r.(=) p.(=)
?/? c.1063G>T r.(?) p.(Ala355Ser)
?/? c.1127C>T r.(?) p.(Thr376Ile)
?/? c.1130T>C r.(?) p.(Ile377Thr)
?/? c.1151G>A r.(?) p.(Arg384His)
?/? c.1164+11A>G r.(=) p.(=)
?/? c.1164+23C>A r.(=) p.(=)
?/? c.1164+46T>C r.(=) p.(=)
?/? c.1165-39del r.(=) p.(=)
?/? c.1165-20del r.(=) p.(=)
?/? c.1175A>G r.(?) p.(Tyr392Cys)
?/? c.1200G>A r.(=) p.(=)
?/? c.1212C>T r.(=) p.(=)
?/? c.1213A>G r.(?) p.(Met405Val)
?/? c.1253C>T r.(?) p.(Ala418Val)
?/? c.1296T>C r.(=) p.(=)
?/? c.1320+1G>A r.spl? p.?
?/? c.1320+33T>C r.(=) p.(=)
?/? c.1329G>A r.(?) p.(Met443Ile)
?/? c.1332C>T r.(=) p.(=)
?/? c.1374C>T r.(=) p.(=)
?/? c.1381G>C r.(?) p.(Ala461Pro)
?/? c.1398T>C r.(=) p.(=)
?/? c.1401G>A r.(=) p.(=)
?/? c.1455+4A>C r.spl? p.?
?/? c.1455+15T>C r.(=) p.(=)
?/? c.1455+25A>T r.(=) p.(=)
?/? c.1456-10del r.(=) p.(=)
?/? c.1557G>A r.(=) p.(=)
?/? c.1618+28C>A r.(=) p.(=)
?/? c.1618+29G>A r.(=) p.(=)
?/? c.1618+42A>G r.(=) p.(=)
?/? c.1618+44C>G r.(=) p.(=)
?/? c.1619-46G>A r.(=) p.(=)
?/? c.1619-44T>A r.(=) p.(=)
?/? c.1619-22T>C r.(=) p.(=)
?/? c.1638T>A r.(=) p.(=)
?/? c.1659+19_1659+20del r.(=) p.(=)
?/? c.1659+25G>T r.(=) p.(=)
?/? c.1659+30G>T r.(=) p.(=)
?/? c.1659+34C>T r.(=) p.(=)
?/? c.1659+37A>C r.(=) p.(=)
?/? c.1659+40C>T r.(=) p.(=)
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