Product Details

SNP ID

rs199840248

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52790268 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGCCTGAGCCGCCGCCCGCACTG[A/C]AGCCACCTCCTAAACCACCGCCCAT

Phenotype

MIM: 148043

Polymorphism

A/C, 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	1727	Missense Mutation	TGC,TTC	C554F	NP_476429.2

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