Results for the protein: Q8N5D6

Results for the Protein: Q8N5D6

67464687

26301

GBGT1

NCBI, UniProt

GBGT1_HUMAN RecName: Full=Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1; AltName: Full=Forssman glycolipid synthase-like protein

			0 8 0 3 5

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Default View: Glyco_transf_6 - pfam03414 Glyco_transf_6 - cd02515	Swiss-Prot Protein: Q8N5D6 Identical to: NP_068836 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Glyco_transf_6	pfam03414	8.8e-213	10	347

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_025070	Polymorphism	p.ARG163TRP	N/A
Swiss-Prot	VAR_025071	Polymorphism	p.ASP200ASN	N/A
Swiss-Prot	VAR_025072	Polymorphism	p.GLN238PRO	N/A
dbSNP	rs35403335	Polymorphism	p.ILE291PHE	N/A
dbSNP	rs2073924	Polymorphism	p.LEU20PHE	N/A
dbSNP	rs12350913	Polymorphism	p.LEU79PRO	N/A
Swiss-Prot	VAR_025068	Polymorphism	p.SER21GLY	N/A
Swiss-Prot	VAR_025073	Polymorphism	p.THR248ILE	N/A

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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