Product Details

SNP ID
rs117502073
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:79077819 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCCTCTGAGCAGCCAGAGGCCCC[A/G]GACTTTGTTGTGTCATGACATGATG
Phenotype
MIM: 611898
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ENGASE PubMed Links

Gene Details

Gene
ENGASE
Gene Name
endo-beta-N-acetylglucosaminidase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042573.2 221 Missense Mutation CAG,CGG Q124R NP_001036038.1
XM_006722017.3 221 UTR 5 XP_006722080.1
XM_006722018.3 221 Intron XP_006722081.1
XM_006722019.3 221 Missense Mutation CAG,CGG Q124R XP_006722082.1
XM_017024961.1 221 UTR 5 XP_016880450.1

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