Product Details

SNP ID
rs34154891
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52675714 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGAAATCGACTTGTACTTACACAC[A/G]CTCACGTTCGGGGCACATTCTCCAG
Phenotype
MIM: 139350
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KRT1 PubMed Links

Gene Details

Gene
KRT1
Gene Name
keratin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006121.3 1565 Silent Mutation AGC,AGT S502S NP_006112.3

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