Transcript #00001894 (NM_022437.2, ABCG8 gene)

Transcript name ATP-binding cassette, sub-family G (WHITE), member 8
Gene name ABCG8 (ATP-binding cassette, sub-family G (WHITE), member 8)
Chromosome 2
Transcript - NCBI ID NM_022437.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_071882.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 0000-00-00 00:00:00 +00:19 (LMT)
Date last edited N/A


Variants

489 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-16465785_*17976129dup r.0? p.0?
-?/. - c.-1409G>A r.(?) p.(=)
-/. - c.-1230C>T r.(?) p.(=)
-?/. - c.-1230C>T r.(?) p.(=)
+/. - c.-1207del r.(?) p.(=)
+?/. - c.-1200A>G r.(?) p.(=)
?/. - c.-1197A>G r.(?) p.(=)
?/. - c.-1193G>T r.(?) p.(=)
?/. - c.-1190C>T r.(?) p.(=)
?/. - c.-1190C>T r.(?) p.(=)
?/. - c.-1190C>T r.(?) p.(=)
?/. - c.-1178A>G r.(?) p.(=)
-/. - c.-1174G>C r.(?) p.(=)
-?/. - c.-1153C>T r.(?) p.(=)
-?/. - c.-1139G>T r.(?) p.(=)
?/. - c.-1137C>A r.(?) p.(=)
?/. - c.-1137C>T r.(?) p.(=)
?/. - c.-1124T>C r.(?) p.(=)
+/. - c.-1119C>T r.(?) p.(=)
+?/. - c.-1111_-1091dup r.(?) p.(=)
?/. - c.-1110C>A r.(?) p.(=)
?/. - c.-1109T>C r.(?) p.(=)
-/. - c.-1103G>A r.(?) p.(=)
-?/. - c.-1080G>A r.(?) p.(=)
-?/. - c.-774G>A r.(?) p.(=)
?/. - c.-517C>T r.(?) p.(=)
?/. - c.-513C>A r.(?) p.(=)
?/. - c.-513C>T r.(?) p.(=)
?/. - c.-512G>T r.(?) p.(=)
-?/. - c.-473C>T r.(?) p.(=)
-?/. - c.-468C>T r.(?) p.(=)
-/. - c.-454C>G r.(?) p.(=)
-/. - c.-454C>G r.(?) p.(=)
-?/. - c.-454C>G r.(?) p.(=)
-?/. - c.-452C>A r.(?) p.(=)
?/. - c.-447G>C r.(?) p.(=)
+/. - c.-438G>A r.(?) p.(=)
?/. - c.-435A>C r.(?) p.(=)
-?/. - c.-424A>C r.(?) p.(=)
?/. - c.-415C>A r.(?) p.(=)
-?/. - c.-411T>C r.(?) p.(=)
-?/. - c.-407C>A r.(?) p.(=)
?/. - c.-405C>T r.(?) p.(=)
-/. - c.-401G>A r.(?) p.(=)
-?/. - c.-401G>A r.(?) p.(=)
?/. - c.-397G>T r.(?) p.(=)
-?/. - c.-299G>A r.(?) p.(=)
-?/. - c.-257T>G r.(?) p.(=)
-/. - c.-19T>G r.(?) p.(=)
-/. - c.-19T>G r.(?) p.(=)
-/. - c.-15A>C r.(?) p.(=)
?/. - c.-4C>T r.(?) p.(=)
?/. - c.2T>C r.(?) p.(Met1?)
+?/. - c.3G>T r.(?) p.(Met1?)
+/. - c.10_11insT r.(?) p.(Lys4Ilefs*23)
-?/. - c.15G>A r.(?) p.(Ala5=)
-?/. - c.27A>G r.(?) p.(Arg9=)
?/. - c.28G>A r.(?) p.(Gly10Arg)
-?/. - c.29G>C r.(?) p.(Gly10Ala)
-?/. - c.29G>C r.(?) p.(Gly10Ala)
?/. - c.35C>T r.(?) p.(Pro12Leu)
-?/. - c.36G>A r.(?) p.(=)
-/. - c.51C>A r.(?) p.(Pro17=)
?/. - c.51_63dup r.(?) p.(Gly22ProfsTer9)
-/. - c.55G>C r.(?) p.(Asp19His)
-/. - c.55G>C r.(?) p.(Asp19His)
?/. - c.62C>T r.(?) p.(Ser21Leu)
?/. - c.63+7G>A r.(=) p.(=)
-?/. - c.63+9G>C r.(=) p.(=)
-?/. - c.63+12A>G r.(=) p.(=)
-?/. - c.63+15_63+16del r.(=) p.(=)
-?/. - c.63+289T>C r.(=) p.(=)
-?/. - c.63+302_63+328del r.(=) p.(=)
-?/. - c.63+312_63+328del r.(=) p.(=)
-/. - c.64-1007T>C r.(=) p.(=)
-?/. - c.64-294T>A r.(=) p.(=)
-?/. - c.64-21C>A r.(=) p.(=)
-?/. - c.64-14C>T r.(=) p.(=)
-/. - c.64-7C>T r.(=) p.(=)
-/. - c.64-7C>T r.(=) p.(=)
-/. - c.64-7C>T r.(=) p.(=)
-/. - c.64G>A r.(?) p.(Gly22Ser)
?/. - c.64G>A r.(?) p.(Gly22Ser)
-?/. - c.76A>G r.(?) p.(Arg26Gly)
-?/. - c.94A>G r.(?) p.(Ser32Gly)
?/. - c.97G>A r.(?) p.(Asp33Asn)
-?/. - c.106C>T r.(?) p.(=)
?/. - c.115A>T r.(?) p.(Thr39Ser)
?/. - c.137C>A r.(?) p.(Thr46Asn)
+?/. - c.154C>G r.(?) p.(Leu52Val)
-/. - c.161A>G r.(?) p.(Tyr54Cys)
-/. - c.161A>G r.(?) p.(Tyr54Cys)
-?/. - c.161A>G r.(?) p.(Tyr54Cys)
+?/. - c.165+3A>G r.spl? p.?
-/. - c.165+13C>T r.(=) p.(=)
-?/. - c.165+41G>A r.(=) p.(=)
-/. - c.165+86A>C r.(=) p.(=)
-/. - c.165+105G>C r.(=) p.(=)
-/. - c.165+398T>G r.(=) p.(=)
-/. - c.165+490G>A r.(=) p.(=)
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