Product Details

SNP ID
rs201401681
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52488529 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCACGCTGCTCAGCATCAGCAATG[A/G]CGGCCTGCAGGTTGGCGCACTGGAA
Phenotype
MIM: 148041
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KRT6A PubMed Links

Gene Details

Gene
KRT6A
Gene Name
keratin 6A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005554.3 1432 Missense Mutation GCC,GTC A408V NP_005545.1

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