Product Details

SNP ID
rs10468051
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:72345258 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TGTTATACAGTATTTTTTATTTGTA[C/T]CATTTTTTGTTGTATTTTTTTTTTC
Phenotype
MIM: 606869
Polymorphism
C/T, 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 Intron NP_000511.2
NM_001318825.1 Intron NP_001305754.1

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