Product Details

SNP ID
rs76226247
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52171414 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGCCGCCTTACTCTGAGACCTCC[A/G]ACTCCTGCGAGAAGTACTTCTCTGA
Phenotype
MIM: 611161
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KRT80 PubMed Links

Gene Details

Gene
KRT80
Gene Name
keratin 80
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001081492.1 1476 UTR 3 NP_001074961.1
NM_182507.2 1476 Missense Mutation TCG,TTG S448L NP_872313.2
XM_005268676.3 1476 Missense Mutation TCG,TTG S483L XP_005268733.1

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