Product Details

SNP ID
rs140091006
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:72345529 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAACTTGTTGCTCCACAGCCTTTC[A/G]GCAACAGCCCCTGCTCTGGGCCTGG
Phenotype
MIM: 606869
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HEXA PubMed Links

Gene Details

Gene
HEXA
Gene Name
hexosaminidase subunit alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000520.5 1977 Silent Mutation GCC,GCT A481A NP_000511.2
NM_001318825.1 1977 Silent Mutation GCC,GCT A492A NP_001305754.1

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