Product Details

SNP ID
rs202225978
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:40863210 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACATTCAGCAGCCGCTGGTGGTCC[A/C]CGTTCTGGCGCTCTGCGTCCGCGCG
Phenotype
MIM: 601687
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
KRT12 PubMed Links

Gene Details

Gene
KRT12
Gene Name
keratin 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000223.3 1253 Missense Mutation GGG,GTG G410V NP_000214.1

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