Product Details

SNP ID
rs149737517
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52171660 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTCTCGGGGCAAGAGGACTCACCG[A/G]TTTTGCACCTGGACTGCACAGCGCT
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 1330 Missense Mutation ACC,ATC T411I NP_001074961.1
NM_182507.2 1330 Missense Mutation ACC,ATC T411I NP_872313.2
XM_005268676.3 1330 Missense Mutation ACC,ATC T446I XP_005268733.1

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