Product Details

SNP ID
rs145452809
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:42538438 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGAATGGGCAACCTGCACACCTGG[A/G]ATGGCCCCCTGCCCCCCTCCTGGCA
Phenotype
MIM: 609701
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NAGLU PubMed Links

Gene Details

Gene
NAGLU
Gene Name
N-acetyl-alpha-glucosaminidase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000263.3 708 Missense Mutation AAT,GAT N211D NP_000254.2
XM_006721920.2 708 UTR 5 XP_006721983.1
XM_011524840.1 708 UTR 5 XP_011523142.1
XM_017024686.1 708 Missense Mutation AAT,GAT N8D XP_016880175.1
XM_017024687.1 708 UTR 5 XP_016880176.1

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