Product Details

SNP ID

rs267607442

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52514985 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGGGAGGAGGAGGTGGTGGAGACA[T/A]ATTTGACGCTGGAGCTGCTACCCCC

Phenotype

MIM: 148040

Polymorphism

T/A, Transversion 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	1893	Missense Mutation	TAT,TTT	Y577F	NP_000415.2

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