Transcript #00004001

Transcript name transcript variant 2
Gene name B3GALNT1 (beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group))
Chromosome 3
Transcript - NCBI ID NM_033167.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_149357.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

17 entries on 1 page. Showing entries 1 - 17.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-427-52G>T r.(=) p.(=)
./. - c.-427-4A>C r.spl? p.?
./. - c.-356T>G r.(=) p.(=)
./. - c.-340+25G>C r.(=) p.(=)
./. - c.-340+138T>C r.(=) p.(=)
./. - c.-340+178A>G r.(=) p.(=)
./. - c.-325T>G r.(=) p.(=)
./. - c.-249+20_-249+24del r.(=) p.(=)
./. - c.-249+100G>A r.(=) p.(=)
./. - c.-248-203T>C r.(=) p.(=)
./. - c.-248-53A>G r.(=) p.(=)
./. - c.-150T>A r.(=) p.(=)
./. - c.-143C>T r.(=) p.(=)
./. - c.-35+5G>A r.spl? p.?
./. - c.-34-124G>A r.(=) p.(=)
./. - c.-27G>A r.(=) p.(=)
./. - c.376G>A r.(?) p.(Asp126Asn)
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