Product Details

SNP ID
rs74095220
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52171423 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACTCTGAGACCTCCGACTCCTGC[A/G]AGAAGTACTTCTCTGACATTTCGGT
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 1467 UTR 3 NP_001074961.1
NM_182507.2 1467 Missense Mutation TCG,TTG S445L NP_872313.2
XM_005268676.3 1467 Missense Mutation TCG,TTG S480L XP_005268733.1

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