Product Details

SNP ID

rs1132956

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52469883 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCATCAGCAATGGCAGCCTGCAGG[C/T]TGGCACACTAGGAGGGGAAAGGAAG

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	1259	Missense Mutation	AAC,AGC	N404S	NP_775109.2

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