OMIA 001342-9913 : Mucopolysaccharidosis IIIB in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|NAGLU||N-acetylglucosaminidase, alpha||Bos taurus||19||NC_037346.1 (42618464..42625472)||NAGLU||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Mucopolysaccharidosis IIIB||NAGLU||missense||UMD3.1||19||g.43264699G>A||c.1354G>A||p.E452K||2007||17458708||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|2007||Karageorgos, L., Hill, B., Bawden, MJ., Hopwood, JJ. :|
|Bovine mucopolysaccharidosis type IIIB. Journal of Inherited Metabolic Disease 30:358-64, 2007. Pubmed reference: 17458708. DOI: 10.1007/s10545-007-0539-5.|
- Created by Frank Nicholas on 09 Sep 2008
- Changed by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 20 Feb 2013