Transcript #00017236 (NM_024854.3, PYROXD1 gene)

Transcript name pyridine nucleotide-disulphide oxidoreductase domain 1
Gene name PYROXD1 (pyridine nucleotide-disulphide oxidoreductase domain 1)
Chromosome 12
Transcript - NCBI ID NM_024854.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_079130.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

103 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. - c.285+1G>A r.spl p.?
+?/. - c.285+1G>A r.spl p.?
+/. 3i c.285+1G>A r.166_285del p.Ile56_His95del
+/. 3i c.285+1G>A r.166_285del p.Ile56_His95del
+/. 4i c.414+1G>A r.286_414del p.Cys96_Gln138del
+/. 4i c.414+1G>A r.286_414del p.Cys96_Gln138del
+/. - c.464A>G r.(?) p.(Asn155Ser)
+/. - c.464A>G r.(?) p.(Asn155Ser)
+/. - c.464A>G r.(?) p.(Asn155Ser)
+/. - c.464A>G r.(?) p.(Asn155Ser)
+?/. - c.464A>G r.(?) p.(Asn155Ser)
+/. - c.464A>G r.(?) p.(Asn155Ser)
+/. - c.464A>G r.464a>g p.Asn155Ser
+/. - c.464A>G r.(?) p.(Asn155Ser)
+/. - c.464A>G r.(?) p.(Asn155Ser)
+/. - c.464A>G r.464a>g p.(Asn155Ser)
+/. - c.464A>G r.(?) p.(Asn155Ser)
+/. - c.464A>G r.464a>g p.Asn155Ser
+/. - c.464A>G r.(?) p.(Asn155Ser)
+/. - c.1061A>G r.(?) p.(Tyr354Cys)
+/. - c.1116G>C r.(?) p.(Gln372His)
+/. - c.1116G>C r.(?) p.(Gln372His)
+/. - c.1160_1163dup r.(?) p.(Lys388Asnfs*14)
?/. - c.1250del r.(?) p.(Tyr417LeufsTer14)
?/. - c.1253A>T r.(?) p.(Lys418Met)
?/. - c.*1445C>T r.(=) p.(=)
?/. - c.*1447T>C r.(=) p.(=)
?/. - c.*1451C>T r.(=) p.(=)
?/. - c.*1451C>T r.(=) p.(=)
?/. - c.*1452G>C r.(=) p.(=)
?/. - c.*1468G>C r.(=) p.(=)
?/. - c.*1483G>A r.(=) p.(=)
?/. - c.*1484A>C r.(=) p.(=)
?/. - c.*1492T>C r.(=) p.(=)
?/. - c.*1495T>G r.(=) p.(=)
?/. - c.*1495T>G r.(=) p.(=)
?/. - c.*1507G>A r.(=) p.(=)
?/. - c.*1513T>C r.(=) p.(=)
?/. - c.*1513T>C r.(=) p.(=)
?/. - c.*1514T>C r.(=) p.(=)
?/. - c.*1517T>C r.(=) p.(=)
?/. - c.*1519T>C r.(=) p.(=)
?/. - c.*1531G>C r.(=) p.(=)
?/. - c.*1541C>T r.(=) p.(=)
?/. - c.*1541C>T r.(=) p.(=)
?/. - c.*1546A>C r.(=) p.(=)
?/. - c.*1552T>C r.(=) p.(=)
?/. - c.*1552T>C r.(=) p.(=)
?/. - c.*1555T>C r.(=) p.(=)
?/. - c.*1576G>A r.(=) p.(=)
-?/. - c.*1592C>G r.(=) p.(=)
-?/. - c.*1596del r.(?) p.(=)
-?/. - c.*1605_*1612dup r.(=) p.(=)
-?/. - c.*1606_*1612dup r.(=) p.(=)
-?/. - c.*1608_*1612dup r.(=) p.(=)
-?/. - c.*1609_*1612dup r.(=) p.(=)
-?/. - c.*1610_*1612dup r.(=) p.(=)
-/. - c.*1612del r.(?) p.(=)
-?/. - c.*1612del r.(?) p.(=)
?/. - c.*2217T>C r.(=) p.(=)
?/. - c.*2217T>C r.(=) p.(=)
?/. - c.*2219A>G r.(=) p.(=)
?/. - c.*2219A>G r.(=) p.(=)
?/. - c.*2220A>G r.(=) p.(=)
?/. - c.*2231G>A r.(=) p.(=)
?/. - c.*2231G>A r.(=) p.(=)
?/. - c.*2232T>A r.(=) p.(=)
?/. - c.*2232T>C r.(=) p.(=)
?/. - c.*2234G>A r.(=) p.(=)
?/. - c.*2243_*2244dup r.(=) p.(=)
?/. - c.*2249A>T r.(=) p.(=)
?/. - c.*2249A>T r.(=) p.(=)
?/. - c.*2258G>C r.(=) p.(=)
?/. - c.*2261T>A r.(=) p.(=)
?/. - c.*2269A>T r.(=) p.(=)
?/. - c.*2270T>C r.(=) p.(=)
?/. - c.*2270T>C r.(=) p.(=)
?/. - c.*2271T>C r.(=) p.(=)
?/. - c.*2271T>C r.(=) p.(=)
?/. - c.*2272G>T r.(=) p.(=)
?/. - c.*2272G>T r.(=) p.(=)
?/. - c.*2279A>G r.(=) p.(=)
?/. - c.*2279del r.(=) p.(=)
?/. - c.*2280_*2281delinsAG r.(=) p.(=)
?/. - c.*2280_*2281delinsAG r.(=) p.(=)
?/. - c.*2291G>A r.(=) p.(=)
?/. - c.*2294C>T r.(=) p.(=)
?/. - c.*2297A>G r.(=) p.(=)
?/. - c.*2301T>C r.(=) p.(=)
?/. - c.*2309G>A r.(=) p.(=)
?/. - c.*2316T>C r.(=) p.(=)
?/. - c.*2316T>C r.(=) p.(=)
?/. - c.*2318G>A r.(=) p.(=)
?/. - c.*2325C>G r.(=) p.(=)
?/. - c.*2333C>T r.(=) p.(=)
?/. - c.*2333C>T r.(=) p.(=)
?/. - c.*2335_*2336del r.(=) p.(=)
?/. - c.*2335_*2336del r.(=) p.(=)
?/. - c.*2338G>C r.(=) p.(=)
?/. - c.*2341T>G r.(=) p.(=)
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