Product Details

SNP ID
rs202104381
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52515140 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTAGTAGCTTCCACTGCTACCTCC[A/G]GCAAGACCTCCACCGAGGCCGCCGC
Phenotype
MIM: 148040
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
KRT5 PubMed Links

Gene Details

Gene
KRT5
Gene Name
keratin 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000424.3 1738 Silent Mutation GCC,GCT A525A NP_000415.2

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