Product Details

SNP ID
rs199972656
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219418480 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGTCACCATGAGCCAGGCCTACTC[A/G]TCCAGCCAGCGCGTGTCCTCCTACC
Phenotype
MIM: 125660
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
DES PubMed Links

Gene Details

Gene
DES
Gene Name
desmin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001927.3 104 Silent Mutation TCA,TCG S6S NP_001918.3

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