Product Details

SNP ID

rs141330791

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52515071 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTTGCACTGAAGCCAGAGCCCCC[A/C]ACACTGAGCCCACCACCTAGGCCGA

Phenotype

MIM: 148040

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

KRT5 PubMed Links

Gene Details

Gene

KRT5

Gene Name

keratin 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000424.3	1807	Silent Mutation	GTG,GTT	V548V	NP_000415.2

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