Product Details

SNP ID

rs200589093

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52515011 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTGACGCTGGAGCTGCTACCCCC[A/G]CCACTGCCAAAGCCCACCCCCAGCC

Phenotype

MIM: 148040

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KRT5 PubMed Links

Gene Details

Gene

KRT5

Gene Name

keratin 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000424.3	1867	Silent Mutation			NP_000415.2

View Full Product Details