Transcript #00000051

Transcript name ATP-binding cassette, sub-family B (MDR/TAP), member 6
Gene name ABCB6 (ATP-binding cassette, sub-family B (MDR/TAP), member 6)
Chromosome 2
Transcript - NCBI ID NM_005689.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_005680.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-37C>T r.(=) p.(=)
?/? c.117G>A r.(=) p.(=)
?/? c.275C>T r.(?) p.(Ala92Val)
?/? c.294C>G r.(=) p.(=)
?/? c.318T>C r.(=) p.(=)
?/? c.346C>T r.(=) p.(=)
?/? c.373C>T r.(?) p.(Leu125Phe)
?/? c.376del r.(?) p.(Val126Serfs*124)
?/? c.386G>A r.(?) p.(Arg129Gln)
?/? c.439A>G r.(?) p.(Ser147Gly)
?/? c.453G>C r.(=) p.(=)
?/? c.470C>T r.(?) p.(Ala157Val)
?/? c.486C>T r.(=) p.(=)
?/? c.490G>A r.(?) p.(Ala164Thr)
?/? c.503G>A r.(?) p.(Trp168*)
?/? c.549+32T>C r.(=) p.(=)
?/? c.550-14_550-13insA r.(=) p.(=)
?/? c.550-1G>C r.spl? p.?
?/? c.574C>T r.(?) p.(Arg192Trp)
?/? c.575G>A r.(?) p.(Arg192Gln)
?/? c.589G>A r.(?) p.(Gly197Arg)
?/? c.622G>A r.(?) p.(Gly208Arg)
?/? c.628C>T r.(?) p.(Arg210Cys)
?/? c.633C>T r.(=) p.(=)
?/? c.659A>T r.(?) p.(Glu220Val)
?/? c.684C>G r.(?) p.(Ser228Arg)
?/? c.687+7C>A r.(=) p.(=)
?/? c.687+10A>G r.(=) p.(=)
?/? c.687+31A>T r.(=) p.(=)
?/? c.687+32C>T r.(=) p.(=)
?/? c.688-29C>T r.(=) p.(=)
?/? c.688-17G>A r.(=) p.(=)
?/? c.688-11C>T r.(=) p.(=)
?/? c.688-9C>T r.(=) p.(=)
?/? c.717G>A r.(?) p.(Trp239*)
?/? c.766C>T r.(?) p.(Arg256*)
?/? c.781C>T r.(=) p.(=)
?/? c.787C>G r.(?) p.(Leu263Val)
?/? c.826C>T r.(?) p.(Arg276Trp)
?/? c.847C>T r.(?) p.(Pro283Ser)
?/? c.868+7A>T r.(=) p.(=)
?/? c.868+40A>G r.(=) p.(=)
?/? c.869-24G>A r.(=) p.(=)
?/? c.873C>T r.(=) p.(=)
?/? c.885G>A r.(=) p.(=)
?/? c.904C>G r.(?) p.(Leu302Val)
?/? c.920C>G r.(?) p.(Thr307Ser)
?/? c.937A>G r.(?) p.(Lys313Glu)
?/? c.971-25T>C r.(=) p.(=)
?/? c.971-19G>A r.(=) p.(=)
?/? c.975C>T r.(=) p.(=)
?/? c.994T>C r.(?) p.(Phe332Leu)
?/? c.1028G>A r.(?) p.(Arg343Gln)
?/? c.1072C>G r.(?) p.(Leu358Val)
?/? c.1112G>A r.(?) p.(Arg371Gln)
?/? c.1116C>T r.(=) p.(=)
?/? c.1131A>G r.(=) p.(=)
?/? c.1154+5C>T r.spl? p.?
?/? c.1155-44C>G r.(=) p.(=)
?/? c.1155-42A>G r.(=) p.(=)
?/? c.1243C>T r.(?) p.(Leu415Phe)
?/? c.1248T>A r.(=) p.(=)
?/? c.1273C>G r.(?) p.(Leu425Val)
?/? c.1276+13G>A r.(=) p.(=)
?/? c.1276+40A>C r.(=) p.(=)
?/? c.1277-14C>G r.(=) p.(=)
?/? c.1278C>A r.(=) p.(=)
?/? c.1285A>G r.(?) p.(Ile429Val)
?/? c.1293C>T r.(=) p.(=)
?/? c.1340A>G r.(?) p.(Asn447Ser)
?/? c.1359A>G r.(=) p.(=)
?/? c.1361T>C r.(?) p.(Val454Ala)
?/? c.1370T>C r.(?) p.(Leu457Pro)
?/? c.1386+14C>T r.(=) p.(=)
?/? c.1386+15G>A r.(=) p.(=)
?/? c.1386+33C>T r.(=) p.(=)
?/? c.1387-62_1387-60del r.(=) p.(=)
?/? c.1387-52C>T r.(=) p.(=)
?/? c.1387-51G>A r.(=) p.(=)
?/? c.1387-11G>A r.(=) p.(=)
?/? c.1401C>T r.(=) p.(=)
?/? c.1404C>T r.(=) p.(=)
?/? c.1413C>T r.(=) p.(=)
?/? c.1423C>T r.(?) p.(Arg475Cys)
?/? c.1452+25C>T r.(=) p.(=)
?/? c.1452+46G>C r.(=) p.(=)
?/? c.1453-10T>C r.(=) p.(=)
?/? c.1453-2A>G r.spl? p.?
?/? c.1474G>A r.(?) p.(Ala492Thr)
?/? c.1485T>C r.(=) p.(=)
?/? c.1515T>A r.(=) p.(=)
?/? c.1521C>A r.(=) p.(=)
?/? c.1531G>A r.(?) p.(Ala511Thr)
?/? c.1534G>A r.(?) p.(Gly512Ser)
?/? c.1537T>C r.(?) p.(Ser513Pro)
?/? c.1548C>T r.(=) p.(=)
?/? c.1561A>G r.(?) p.(Thr521Ala)
?/? c.1562C>G r.(?) p.(Thr521Ser)
?/? c.1578+52A>G r.(=) p.(=)
?/? c.1579-40A>C r.(=) p.(=)
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