Product Details

SNP ID
rs147343719
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:121614778 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTAAGGCACTTAGATCGAGCTGT[A/G]TATTTTGTTGCATAGCCCAGGCTCA
Phenotype
MIM: 601636
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HAS2 PubMed Links

Gene Details

Gene
HAS2
Gene Name
hyaluronan synthase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005328.2 1528 Silent Mutation TAC,TAT Y330Y NP_005319.1

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