Product Details

SNP ID

rs59169454

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52675518 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGCCACCTCCAGAACCATAGCTA[T/CC]ACCTCCGGAGCCATAGCTGCTACCT

Phenotype

MIM: 139350

Polymorphism

T/CC, Insertion/deletion

Allele Nomenclature

Literature Links

KRT1 PubMed Links

Gene Details

Gene

KRT1

Gene Name

keratin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006121.3	1668	Silent Mutation	GGG,GGT	G537G	NP_006112.3

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