Product Details

SNP ID

rs267607431

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52791248 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCAGCTTGCGGTAGGTGGCGATC[T/A]CCACGTCCAGGGCCAGCTTGACATT

Phenotype

MIM: 148043

Polymorphism

T/A, Transversion substitution

Allele Nomenclature

Literature Links

KRT3 PubMed Links

Gene Details

Gene

KRT3

Gene Name

keratin 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_057088.2	1559	Missense Mutation	GAG,GTG	E498V	NP_476429.2

View Full Product Details