Transcript #00007415

Transcript name aminoadipate-semialdehyde synthase
Gene name AASS (aminoadipate-semialdehyde synthase)
Chromosome 7
Transcript - NCBI ID NM_005763.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005754.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

36 entries on 1 page. Showing entries 1 - 36.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-2A>G r.(=) p.(=)
./. - c.211-74C>A r.(=) p.(=)
./. - c.388-125T>A r.(=) p.(=)
./. - c.473-66G>A r.(=) p.(=)
./. - c.621G>A r.(=) p.(=)
./. - c.687+71C>G r.(=) p.(=)
./. - c.688-15A>G r.(=) p.(=)
./. - c.894+17C>T r.(=) p.(=)
./. - c.895-100T>A r.(=) p.(=)
./. - c.1044-60_1044-59insT r.(=) p.(=)
./. - c.1107T>C r.(=) p.(=)
./. - c.1179G>A r.(=) p.(=)
./. - c.1279-123T>G r.(=) p.(=)
./. - c.1293G>A r.(=) p.(=)
./. - c.1338+67_1338+68del r.(=) p.(=)
./. - c.1407-18_1407-17del r.(=) p.(=)
./. - c.1407-18_1407-7del r.(=) p.(=)
./. - c.1473A>G r.(?) p.(Ile491Met)
./. - c.1528+45C>T r.(=) p.(=)
./. - c.1554A>C r.(?) p.(Glu518Asp)
./. - c.1678C>T r.(?) p.(Pro560Ser)
./. - c.1875+118del r.(=) p.(=)
./. - c.1875+118dup r.(=) p.(=)
./. - c.2016+114A>T r.(=) p.(=)
./. - c.2016+163C>T r.(=) p.(=)
./. - c.2118G>A r.(=) p.(=)
./. - c.2169del r.(?) p.(Thr724Hisfs*2)
./. - c.2184+60C>T r.(=) p.(=)
./. - c.2185-1142G>A r.(=) p.(=)
./. - c.2276C>G r.(?) p.(Thr759Ser)
./. - c.2280+60C>T r.(=) p.(=)
./. - c.2281-57C>T r.(=) p.(=)
./. - c.2396+65G>A r.(=) p.(=)
./. - c.2486-35T>C r.(=) p.(=)
./. - c.2729G>A r.(?) p.(Arg910Gln)
./. - c.2762A>G r.(?) p.(Gln921Arg)
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