Product Details

SNP ID

rs267607386

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:40863141 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTCACCCTTGGGCCTCCCCGTCC[C/A]GCAGGCGGCGGTAGGTCTCAATCTC

Phenotype

MIM: 601687

Polymorphism

C/A, Transversion substitution

Allele Nomenclature

Literature Links

KRT12 PubMed Links

Gene Details

Gene

KRT12

Gene Name

keratin 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000223.3	1322	Missense Mutation	CGG,CTG	R433L	NP_000214.1

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