Product Details

SNP ID
rs201977053
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:10405604 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGAGCCAACAACAGATTCTAGGGC[A/G]CTGCAAAATGCTTCAGCAATTAATT
Phenotype
MIM: 604896
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MKKS PubMed Links

Gene Details

Gene
MKKS
Gene Name
McKusick-Kaufman syndrome
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018848.3 2246 Silent Mutation AGC,AGT S452S NP_061336.1
NM_170784.2 2246 Silent Mutation AGC,AGT S452S NP_740754.1

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