Transcript #00000238 (NM_000883.3, IMPDH1 gene)

Transcript name transcript variant 1
Gene name IMPDH1 (IMP (inosine 5'-monophosphate) dehydrogenase 1)
Chromosome 7
Transcript - NCBI ID NM_000883.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000874.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

268 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-7524004_*7032997del r.0? p.0?
+?/. - c.(?_-1)_(*1_?)del r.(?) p.(?)
+/. 5 c.? r.(?) p.?
+?/. - c.? r.(?) p.?
+?/. - c.? r.? p.?
+/. 5 c.? r.(?) p.?
+/. 5 c.? r.(?) p.?
+/. 5 c.? r.(?) p.?
+/. 5 c.? r.(?) p.?
+?/. 5 c.? r.(?) p.?
+?/. 11 c.? r.(?) p.?
-/. 9 c.? r.(?) p.?
-/. 9 c.? r.(?) p.?
+?/. 5 c.? r.(?) p.?
+/. 7 c.? r.(?) p.?
-/. 9 c.? r.(?) p.?
+/. 9 c.? r.(?) p.?
+?/. - c.? r.(?) p.(Leu284Pro)
?/. - c.7G>A r.(?) p.(Gly3Arg)
?/. - c.34G>C r.(?) p.(Gly12Arg)
+?/. - c.71G>C r.(?) p.(Arg24Pro)
+?/. - c.147-2A>G r.spl? p.?
+/. 2 c.189A>G r.spl p.?
-?/. - c.190+6T>A r.(=) p.(=)
+/. - c.193del r.(?) p.(Leu65Tyrfs*26)
+/. 3 c.231G>C r.(?) p.(Gln77His)
+/. 3 c.231G>C r.(?) p.(Gln77His)
+/. 3 c.231G>C r.(?) p.(Gln77His)
+/. 3 c.231G>C r.(?) p.(Gln77His)
+/. 3 c.231G>C r.(?) p.(Gln77His)
+/. 3 c.231G>C r.(?) p.(Gln77His)
+/. 3 c.231G>C r.(?) p.(Gln77His)
+/. 3 c.231G>C r.(?) p.(Gln77His)
+/. 3 c.231G>C r.(?) p.(Gln77His)
+/. 3 c.231G>C r.(?) p.(Gln77His)
+/. 3 c.231G>C r.(?) p.(Gln77His)
+/. 3 c.231G>C r.(?) p.(Gln77His)
+/. 3 c.231G>C r.(?) p.(Gln77His)
+/. 3 c.231G>C r.(?) p.(Gln77His)
+/. 3 c.231G>C r.(?) p.(Gln77His)
+/. 3 c.231G>C r.(?) p.(Gln77His)
-/. - c.254+17C>T r.(=) p.(=)
+?/. - c.255-2A>G r.spl p.(?)
+?/. 5 c.318G>C r.? p.(Gln106His)
+?/. 5 c.319C>T r.(=) p.(Gln107*)
-?/. - c.348C>T r.(?) p.(Thr116=)
+?/. 5 c.349C>T r.(=) p.(=)
-/. - c.353+7G>C r.(=) p.(=)
-?/. - c.353+8C>A r.(=) p.(=)
+?/. - c.402+1G>T r.spl p.(?)
-?/. - c.402+9C>T r.(=) p.(=)
-?/. - c.402+15C>T r.(=) p.(=)
+/. - c.402+57G>A r.spl p.?
?/. - c.403-5C>A r.spl? p.?
-/. - c.444G>T r.(?) p.(Thr148=)
?/. - c.461C>T r.(?) p.(Pro154Leu)
-/. - c.522T>C r.(?) p.(Gly174=)
?/. - c.527T>C r.(?) p.(Ile176Thr)
?/. - c.568C>T r.(?) p.(Arg190Trp)
?/. - c.568C>T r.(?) p.(Arg190Trp)
+?/. - c.568C>T r.(?) p.(Arg190Trp)
?/. - c.568C>T r.(?) p.(Arg190Trp)
?/. - c.569G>T r.(?) p.(Arg190Leu)
-?/. - c.580-5C>T r.spl? p.?
+?/. 8 c.585T>G r.(?) p.(Phe195Leu)
+?/. 8 c.590A>C r.(?) p.(Gln197Pro)
+?/. - c.592G>T r.(?) p.(Gly198Cys)
+?/. 7 c.592G>T r.(?) p.(Gly198Cys)
?/. - c.595_597del r.(?) p.(Phe199del)
+?/. - c.626C>T r.(?) p.(Ser209Leu)
+?/. - c.626C>T r.(?) p.(Ser209Leu)
?/. - c.640G>A r.(?) p.(Asp214Asn)
?/. - c.659T>A r.(?) p.(Met220Lys)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
+/. 7 c.676G>A r.(?) p.(Gly226Ser)
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