Product Details

SNP ID

rs11540291

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52469879 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCAGCATCAGCAATGGCAGCCTG[C/T]AGGCTGGCACACTAGGAGGGGAAAG

Phenotype

MIM: 612315

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KRT6C PubMed Links

Gene Details

Gene

KRT6C

Gene Name

keratin 6C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173086.4	1263	Silent Mutation	CTA,CTG	L405L	NP_775109.2

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