Product Details

SNP ID

rs1132954

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52470524 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTACCTGCTTCTTGACATGGTCG[C/A]TCTCAGATCTCAGCCTCTGGATCAT

Phenotype

MIM: 612315

Polymorphism

C/A, Transversion 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	1232	Missense Mutation	AGC,ATC	S395I	NP_775109.2

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