Transcript #00001861 (NM_005689.2, ABCB6 gene)

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

53 entries on 1 page. Showing entries 1 - 53.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-2524C>T r.(?) p.(=)
?/. - c.-2452A>G r.(?) p.(=)
-?/. - c.80T>G r.(?) p.(Phe27Cys)
-/. - c.117G>A r.(?) p.(Leu39=)
+/. - c.169G>A r.(?) p.(Ala57Thr)
-/. - c.216C>T r.(?) p.(Pro72=)
-?/. - c.309G>A r.(?) p.(Leu103=)
-?/. - c.347T>G r.(?) p.(Leu116Arg)
?/. - c.490G>A r.(?) p.(Ala164Thr)
?/. - c.574C>T r.(?) p.(Arg192Trp)
?/. - c.574C>T r.(?) p.(Arg192Trp)
+/. - c.574C>T r.(?) p.(Arg192Trp)
-?/. - c.575G>A r.(?) p.(Arg192Gln)
-?/. - c.575G>A r.(?) p.(Arg192Gln)
?/. - c.575G>A r.(?) p.(Arg192Gln)
-?/. - c.633C>G r.(?) p.(Pro211=)
-/. - c.649C>A r.(?) p.(Gln217Lys)
-?/. - c.659A>T r.(?) p.(Glu220Val)
-/. - c.688-9C>T r.(=) p.(=)
+/. - c.717G>A r.(?) p.(Trp239Ter)
+/. - c.717G>A r.(?) p.(Trp239*)
-/. - c.826C>T r.(?) p.(Arg276Trp)
-/. - c.826C>T r.(?) p.(Arg276Trp)
-/. - c.826C>T r.(?) p.(Arg276Trp)
?/. - c.889G>T r.(?) p.(Ala297Ser)
-?/. - c.904C>G r.(?) p.(Leu302Val)
?/. - c.1007G>C r.(?) p.(Arg336Pro)
-?/. - c.1030C>T r.(?) p.(Arg344Trp)
?/. - c.1075C>T r.(?) p.(Arg359Cys)
-/. - c.1217G>C r.(?) p.(Ser406Thr)
-/. - c.1230C>T r.(?) p.(Asn410=)
-?/. - c.1231G>A r.(?) p.(Ala411Thr)
?/. - c.1385C>T r.(?) p.(Thr462Met)
-?/. - c.1442T>C r.(?) p.(Ile481Thr)
-?/. - c.1452+7A>T r.(=) p.(=)
-?/. - c.1562C>G r.(?) p.(Thr521Ser)
-?/. - c.1562C>G r.(?) p.(Thr521Ser)
-/. - c.1562C>G r.(?) p.(Thr521Ser)
-?/. - c.1656-10C>T r.(=) p.(=)
-/. - c.1719+18A>C r.(=) p.(=)
-?/. - c.1762G>A r.(?) p.(Gly588Ser)
-?/. - c.1762G>A r.(?) p.(Gly588Ser)
?/. - c.1844C>T r.(?) p.(Pro615Leu)
?/. - c.1900C>T r.(?) p.(Arg634Cys)
-?/. - c.1943G>A r.(?) p.(Arg648Gln)
-/. - c.1969-20G>A r.(=) p.(=)
?/. - c.2041G>A r.(?) p.(Ala681Thr)
-/. - c.2144-4A>G r.spl? p.?
-?/. - c.2163C>T r.(?) p.(Gly721=)
?/. - c.2168G>A r.(?) p.(Arg723Gln)
+/. - c.2168G>A r.(?) p.(Arg723Gln)
-?/. - c.2215C>T r.(?) p.(Arg739Cys)
-/. - c.2351+12C>T r.(=) p.(=)
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