Transcript #00014058 (NM_002454.2, MTRR gene)

Transcript name transcript variant 1
Gene name MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)
Chromosome 5
Transcript - NCBI ID NM_002454.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_002445.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

68 entries on 1 page. Showing entries 1 - 68.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-2532C>G r.(?) p.(=)
?/. - c.-2448T>G r.(?) p.(=)
?/. - c.-1945A>C r.(?) p.(=)
-?/. - c.-1874_-1872del r.(?) p.(=)
?/. - c.-1696G>A r.(?) p.(=)
?/. - c.-1435T>C r.(?) p.(=)
?/. - c.-1311G>C r.(?) p.(=)
-?/. - c.-1022_-1018del r.(?) p.(=)
-?/. - c.-1022_-1018dup r.(?) p.(=)
-?/. - c.-1021_-1018del r.(?) p.(=)
-?/. - c.-1021_-1018dup r.(?) p.(=)
-?/. - c.-1020_-1018del r.(?) p.(=)
-?/. - c.-1018dup r.(?) p.(=)
-/. - c.-119T>C r.(?) p.(=)
-/. - c.66A>G r.(?) p.(Ile22Met)
-/. - c.66A>G r.(?) p.(Ile22Met)
?/. - c.160G>A r.(?) p.(Val54Ile)
-?/. - c.177C>G r.(?) p.(Thr59=)
-/. - c.210C>G r.(?) p.(Arg70=)
-?/. - c.210C>G r.(?) p.(Arg70=)
-/. - c.288C>T r.(?) p.(Leu96=)
?/. - c.446C>T r.(?) p.(Ala149Val)
-?/. - c.505G>A r.(?) p.(Val169Met)
-/. - c.524C>T r.(?) p.(Ser175Leu)
-/. - c.524C>T r.(?) p.(Ser175Leu)
-/. - c.537T>C r.(?) p.(Leu179=)
-/. - c.769T>A r.(?) p.(Ser257Thr)
+/. - c.781-2A>T r.spl? p.?
?/. - c.869T>C r.(?) p.(Ile290Thr)
-?/. - c.904-21_904-20dup r.(=) p.(=)
-/. - c.904-20dup r.(=) p.(=)
-?/. - c.904-20_904-19insTC r.(=) p.(=)
-?/. - c.904-19dup r.(=) p.(=)
-?/. - c.904-6C>T r.(=) p.(=)
-?/. - c.904-4C>T r.spl? p.?
-/. - c.997C>G r.(?) p.(Leu333Val)
-/. - c.997C>G r.(?) p.(Leu333Val)
-/. - c.1049A>G r.(?) p.(Lys350Arg)
?/. - c.1146+3A>T r.spl? p.?
-/. - c.1155G>A r.(?) p.(Leu385=)
-/. - c.1243C>T r.(?) p.(Arg415Cys)
-?/. - c.1326C>T r.(?) p.(Leu442=)
-/. - c.1349C>G r.(?) p.(Pro450Arg)
-/. - c.1370+19G>A r.(=) p.(=)
-/. - c.1464A>G r.(?) p.(Val488=)
-?/. - c.1468A>G r.(?) p.(Thr490Ala)
-?/. - c.1468A>G r.(?) p.(Thr490Ala)
-/. - c.1468A>G r.(?) p.(Thr490Ala)
-/. - c.1536C>T r.(?) p.(Ser512=)
-?/. - c.1544C>T r.(?) p.(Ala515Val)
?/. - c.1574G>A r.(?) p.(Arg525Gln)
-/. - c.1653G>A r.(?) p.(Pro551=)
-/. - c.1676+20A>G r.(=) p.(=)
-/. - c.1677-9del r.(=) p.(=)
-/. - c.1677-9dup r.(=) p.(=)
-?/. - c.1677-8C>T r.(=) p.(=)
-?/. - c.1677-8_1677-5del r.spl? p.?
-?/. - c.1677-3_1677-2insTTTT r.spl? p.?
?/. - c.1736G>A r.(?) p.(Gly579Asp)
-/. - c.1761T>C r.(?) p.(Tyr587=)
?/. - c.1761T>C r.(=) p.(=)
-/. - c.1783C>T r.(?) p.(His595Tyr)
-/. - c.1809T>A r.(?) p.(Thr603=)
-?/. - c.1819G>A r.(?) p.(Val607Ile)
-/. - c.1875G>A r.(?) p.(Val625=)
-/. - c.1911G>A r.(?) p.(Ala637=)
-/. - c.1911G>A r.(?) p.(Ala637=)
-?/. - c.1982A>G r.(?) p.(His661Arg)
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