Product Details

SNP ID
rs192902271
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:79077775 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGATGGCTTTAATGTGGCCCTGGA[A/G]CCCCTGGCGTGTCGCCAGCCCCCTC
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_001042573.2 177 Silent Mutation GAA,GAG E109E NP_001036038.1
XM_006722017.3 177 UTR 5 XP_006722080.1
XM_006722018.3 177 Intron XP_006722081.1
XM_006722019.3 177 Silent Mutation GAA,GAG E109E XP_006722082.1
XM_017024961.1 177 UTR 5 XP_016880450.1

View Full Product Details