Product Details

SNP ID
rs201150918
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52645090 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTACCCTTTACAGAGCTAGAACCCC[C/T]ACCTCCAGAGCCATATCCTCCTCCA
Phenotype
MIM: 600194
Polymorphism
C/T, Transition 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 1882 Missense Mutation AGG,GGG R617G NP_000414.2

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