Product Details

SNP ID
rs35043606
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52645389 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTCTACCTCCAGAACCTCCAAAG[C/G]CAGCCTTGGATGCCACATTTGATGA
Phenotype
MIM: 600194
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
KRT2 PubMed Links

Gene Details

Gene
KRT2
Gene Name
keratin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000423.2 1583 Missense Mutation GCC,GGC A517G NP_000414.2

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