Transcript #00019350 (NM_080669.4, SLC46A1 gene)

Transcript name transcript variant 1
Gene name SLC46A1 (solute carrier family 46 (folate transporter), member 1)
Chromosome 17
Transcript - NCBI ID NM_080669.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_542400.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

34 entries on 1 page. Showing entries 1 - 34.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.55dup r.(?) p.(Val19GlyfsTer146)
-?/. - c.189G>C r.(?) p.(Arg63Ser)
-?/. - c.272T>C r.(?) p.(Val91Ala)
-?/. - c.294C>A r.(?) p.(Leu98=)
-?/. - c.294C>A r.(?) p.(Leu98=)
+/? ? c.337C>A r.(?) p.(Arg113Ser)
+/? ? c.337C>T r.(?) p.(Arg113Cys)
-?/. - c.414G>A r.(?) p.(Gln138=)
-?/. - c.425G>T r.(?) p.(Gly142Val)
+/? ? c.439G>C r.(?) p.(Gly147Arg)
+/? ? c.466G>T r.(?) p.(Asp156Tyr)
?/. - c.512T>A r.(?) p.(Val171Asp)
?/. - c.512T>A r.(?) p.(Val171Asp)
-?/. - c.594C>T r.(?) p.(Leu198=)
-?/. - c.746G>A r.(?) p.(Arg249Gln)
-?/. - c.756C>G r.(?) p.(Val252=)
+/? ? c.954C>G r.(?) p.(Ser318Arg)
+/? ? c.1004C>A r.(?) p.(Ala335Asp)
+/? ? c.1012G>C r.(?) p.(Gly338Arg)
+/? ? c.1126C>T r.(?) p.(Arg376Trp)
+/? ? c.1127G>A r.(?) p.(Arg376Gln)
-/. - c.1224_1226= r.(=) p.(Gly408=)
-?/. - c.1225A>G r.(?) p.(Ile409Val)
+?/. - c.1233C>G r.(?) p.(Asn411Lys)
+/? ? c.1274C>G r.(?) p.(Pro425Arg)
-?/. - c.1366C>T r.(?) p.(Pro456Ser)
-?/. - c.*2840G>A r.(=) p.(=)
-?/. - c.*2840G>A r.(=) p.(=)
-?/. - c.*3782T>C - p.?
-?/. - c.*27468G>C r.(=) p.(=)
?/. - c.*30651G>C r.(=) p.(=)
-/. - c.*30968T>C r.(=) p.(=)
-/. - c.*31811C>T r.(=) p.(=)
-/. - c.*32189T>C r.(=) p.(=)
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