Allele/Variant

Sgshmps3a

Species
Mus musculus
Symbol
Sgshmps3a
Category
allele
Allele of gene
Sgsh
Transgenic Constructs
None
Synonyms
  • MPS IIIA
Description
A G-to-A transition point mutation at coding nucleotide 91 of the encoded mRNA (c.91G>A) altered the corresponding amino acid from aspartic acid to asparagine at position 31 of the encoded protein (p.D31N).
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations