Product Details

SNP ID

rs139954107

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52645219 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCCCTTAGAGCCACCACCAGATC[C/T]GTATCTTCCTCCAGAACCACCGCCA

Phenotype

MIM: 600194

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KRT2 PubMed Links

Gene Details

Gene

KRT2

Gene Name

keratin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000423.2	1753	Missense Mutation	AGA,GGA	R574G	NP_000414.2

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