Transcript #00001413

Transcript name UDP-N-acteylglucosamine pyrophosphorylase 1
Gene name UAP1 (UDP-N-acetylglucosamine pyrophosphorylase 1)
Chromosome 1
Transcript - NCBI ID NM_003115.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_003106.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

25 entries on 1 page. Showing entries 1 - 25.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.54A>G r.(=) p.(=)
./. - c.280+42A>T r.(=) p.(=)
./. - c.280+71C>G r.(=) p.(=)
./. - c.322C>T r.(=) p.(=)
./. - c.424C>T r.(?) p.(Arg142Cys)
./. - c.459T>C r.(=) p.(=)
./. - c.485+9C>T r.(=) p.(=)
./. - c.485+92T>C r.(=) p.(=)
./. - c.1027A>G r.(?) p.(Asn343Asp)
./. - c.1028+120C>T r.(=) p.(=)
./. - c.1169+82C>T r.(=) p.(=)
./. - c.1171A>C r.(?) p.(Lys391Gln)
./. - c.1266G>A r.(=) p.(=)
./. - c.1358+58C>G r.(=) p.(=)
./. - c.1358+60_1358+63del r.(=) p.(=)
./. - c.1358+60_1358+63dup r.(=) p.(=)
./. - c.1358+62_1358+63del r.(=) p.(=)
./. - c.1358+62_1358+63dup r.(=) p.(=)
./. - c.1358+2225G>A r.(=) p.(=)
./. - c.1358+2265A>G r.(=) p.(=)
./. - c.1358+2339C>T r.(=) p.(=)
./. - c.1359-131G>A r.(=) p.(=)
./. - c.1426-38A>C r.(=) p.(=)
./. - c.1435A>G r.(?) p.(Ser479Gly)
./. - c.1494T>C r.(=) p.(=)
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