Product Details

SNP ID
rs190897990
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52807137 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGAACTGCCAGAGACACTGCCAC[C/G]AAACCCAAAGCCACTTCCAGAGCCG
Phenotype
MIM: 123940
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
KRT4 PubMed Links

Gene Details

Gene
KRT4
Gene Name
keratin 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002272.3 1553 Missense Mutation CGT,GGT R499G NP_002263.3

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