Product Details

SNP ID
rs2017800
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219418555 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTCCCACTCGGCTCCCCGCTGAG[C/T]TCGCCCGTGTTCCCGCGGGCGGGTT
Phenotype
MIM: 125660
Polymorphism
C/T, 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_001927.3 179 Silent Mutation AGC,AGT S31S NP_001918.3

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