Product Details

SNP ID
rs61730975
Assay Type
Functionally Tested
NCBI dbSNP Submissions
16
Location
Chr.1:171636252 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAGAGGACAATGGCACCTTTGGC[C/T]TCATCGGTGCTGTAAATGACCCAGA
Phenotype
MIM: 601652
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
MYOC PubMed Links

Gene Details

Gene
MYOC
Gene Name
myocilin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000261.1 1210 Silent Mutation GAA,GAG E396E NP_000252.1

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