Transcript #00000834 (NM_005630.2, SLCO2A1 gene)

Transcript name solute carrier organic anion transporter family, member 2A1
Gene name SLCO2A1 (solute carrier organic anion transporter family, member 2A1)
Chromosome 3
Transcript - NCBI ID NM_005630.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_005621.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

70 entries on 1 page. Showing entries 1 - 70.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-143A>G r.(?) p.(=)
-?/. - c.34G>A r.(?) p.(Gly12Ser)
-?/. - c.77C>T r.(?) p.(Ser26Leu)
+/. 1i c.97-1G>A r.97_234del p.Val33_Glu78del
+/. 1i c.97-1G>A r.97_234del p.Val33_Glu78del
+/. 1i c.97-1G>A r.97_234del p.Val33_Glu78del
-/. - c.210G>A r.(?) p.(Ser70=)
?/. - c.234G>A r.(?) p.(Glu78=)
+/. 5 c.253A>T r.(?) p.(I85F)
+/. 5 c.253A>T r.(?) p.(I85F)
?/. 5 c.253A>T r.(?) p.(I85F)
?/. - c.280C>T r.(?) p.(Arg94Trp)
+/. 3 c.290G>A r.(?) p.(R97H)
?/. - c.290G>A r.(?) p.(Arg97His)
+/. 3 c.310C>T r.(?) p.(G104*)
-/. - c.397+10T>C r.(=) p.(=)
-/. - c.397+10T>C r.(=) p.(=)
?/. - c.398-7934A>G r.(=) p.(=)
+/. 4 c.542G>A r.(?) p.(G181D)
+/. 13 c.542G>C r.(?) p.(G181A)
-?/. - c.546C>T r.(?) p.(Ile182=)
+/. 4 c.611C>T r.(?) p.(S204L)
?/. - c.611C>T r.(?) p.(Ser204Leu)
+/. 5 c.664G>A r.(?) p.(Gly222Arg)
+/. 5 c.664G>A r.(?) p.(Gly222Arg)
+/. 6 c.724+1G>T r.spl p.?
+/. 6 c.754C>T r.(?) p.(Arg252*)
+/. 6 c.764G>A r.(?) p.(Gly255Glu)
+/. 6 c.764G>A r.(?) p.(Gly255Glu)
+/. 6 c.830dup r.(?) p.(Phe278LeufsTer18)
+/. 6 c.830dup r.(?) p.(Phe278LeufsTer18)
+/. 6 c.830dup r.(?) p.(Phe278LeufsTer18)
+/. 6 c.830dup r.(?) p.(Phe278LeufsTer18)
+/. 6 c.830dup r.(?) p.(Phe278LeufsTer18)
+/. 6 c.830dup r.(?) p.(Phe278LeufsTer18)
+/. 6 c.830dup r.(?) p.(Phe278LeufsTer18)
+/. 6 c.830dup r.(?) p.(Phe278LeufsTer18)
+/. 6 c.838C>T r.(?) p.(R280*)
+/. 6 c.838C>T r.(?) p.(R280*)
-/. - c.840A>G r.(?) p.(Arg280=)
-?/. - c.904G>C r.(?) p.(Ala302Pro)
?/. - c.940C>T r.(?) p.(Arg314Trp)
+/. 7i c.940+1G>A r.spl p.?
+/. 7i c.940+1G>A r.spl p.?
+?/. 7 c.940+2T>A r.spl p.?
+/. 7 c.941-1G>A r.spl p.?
+/. 8 c.1105+4A>G r.spl? p.?
-/. - c.1186G>A r.(?) p.(Ala396Thr)
?/. 9 c.1259G>T r.(?) p.(C420F)
+/. 9 c.1259G>T r.(?) p.(C420F)
+/. 9 c.1259G>T r.(?) p.(C420F)
+/. 9 c.1259G>T r.(?) p.(C420F)
+/. 9 c.1259G>T r.(?) p.(C420F)
-?/. - c.1288C>T r.(?) p.(Pro430Ser)
?/. 10 c.1333C>T r.(?) p.(R445C)
?/. - c.1378G>A r.(?) p.(Gly460Arg)
-?/. - c.1497C>T r.(?) p.(Ser499=)
+/. 11 c.1517C>A r.(?) p.(S306*)
+/. 12 c.1634del r.(?) p.(Asn545Thrfs*15)
+/. 12 c.1634del r.(?) p.(Asn545Thrfs*15)
?/. - c.1660G>A r.(?) p.(Gly554Arg)
+/. 12 c.1670T>C r.(?) p.(Phe557Ser)
+/. 12 c.1670T>C r.(?) p.(Phe557Ser)
+/. 12 c.1670T>C r.(?) p.(Phe557Ser)
+/. 12 c.1670T>C r.(?) p.(Phe557Ser)
+/. 12 c.1670T>C r.(?) p.(Phe557Ser)
+/. 13 c.1693T>G r.(?) p.(W565G)
+/. 13 c.1693T>G r.(?) p.(W565G)
-?/. - c.1745G>A r.(?) p.(Arg582Gln)
?/. - c.1837T>C r.(?) p.(Tyr613His)
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