Product Details

SNP ID
rs146047066
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52171460 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGACATTTCGGTGATTTTGATCA[C/T]GGGGCCTTTGCTGCCCTTCTTCTTT
Phenotype
MIM: 611161
Polymorphism
C/T, 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 1430 UTR 3 NP_001074961.1
NM_182507.2 1430 Missense Mutation ATG,GTG M433V NP_872313.2
XM_005268676.3 1430 Missense Mutation ATG,GTG M468V XP_005268733.1

View Full Product Details