Transcript #00019359 (NM_024531.4, SLC52A2 gene)

Transcript name transcript variant 1
Gene name SLC52A2 (solute carrier family 52, riboflavin transporter, member 2)
Chromosome 8
Transcript - NCBI ID NM_024531.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_078807.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

43 entries on 1 page. Showing entries 1 - 43.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-4829G>A r.(?) p.(=)
-?/. - c.-2600_-2599insGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAA r.(?) p.(=)
-?/. - c.-2593_-2592insTGGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAACTGACCC r.(?) p.(=)
?/. - c.13A>T r.(?) p.(Thr5Ser)
-?/. - c.69C>T r.(?) p.(Ser23=)
-?/. - c.138C>T r.(?) p.(Ser46=)
+/. - c.149dup r.(?) p.(Tyr50Ter)
+/. - c.149dup r.(?) p.(Tyr50Ter)
?/. - c.167C>T r.(?) p.(Ala56Val)
?/. - c.167C>T r.(?) p.(Ala56Val)
-?/. - c.228C>T r.(?) p.(Asp76=)
-?/. - c.228C>T r.(?) p.(Asp76=)
-?/. - c.321A>G r.(?) p.(Gly107=)
-?/. - c.353C>A r.(?) p.(Ala118Asp)
?/. - c.353C>A r.(?) p.(Ala118Asp)
-?/. - c.353C>A r.(?) p.(Ala118Asp)
-?/. - c.359T>C r.(?) p.(Val120Ala)
+?/. 3 c.401C>T r.(?) p.(Pro134Leu)
+?/. 3 c.401C>T r.(?) p.(Pro134Leu)
-/. - c.555C>T r.(?) p.(Leu185=)
-?/. - c.556G>A r.(?) p.(Asp186Asn)
+/. - c.593G>A r.(?) p.(Trp198Ter)
+?/. - c.808C>T r.(?) p.(Gln270Ter)
-?/. - c.847T>A r.(?) p.(Leu283Met)
+/. 3 c.916G>A r.(?) p.(Gly306Arg)
+/. 3 c.916G>A r.(?) p.(Gly306Arg)
-?/. - c.1001+6C>T r.(=) p.(=)
+?/. - c.1016T>C r.(?) p.(Leu339Pro)
-?/. - c.1039G>A r.(?) p.(Val347Met)
-?/. - c.1089G>A r.(?) p.(Pro363=)
-?/. - c.1089G>A r.(?) p.(Pro363=)
?/. - c.1106C>T r.(?) p.(Ser369Leu)
-?/. - c.1110G>A r.(?) p.(Ala370=)
-?/. - c.1113G>A r.(?) p.(Gly371=)
-?/. - c.1113G>A r.(?) p.(Gly371=)
-?/. - c.1122C>T r.(?) p.(Leu374=)
?/. - c.1160_1162del r.(?) p.(Ser387del)
-?/. - c.1173G>A r.(?) p.(Val391=)
?/. - c.1204C>T r.(?) p.(Arg402Trp)
-?/. - c.1257C>T r.(?) p.(Gly419=)
?/. - c.1277C>T r.(?) p.(Pro426Leu)
-/. - c.*19C>T r.(=) p.(=)
-/. - c.*56A>G r.(=) p.(=)
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