Product Details

SNP ID

rs182482982

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52515039 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGCCAAAGCCCACCCCCAGCCCT[C/T]GGCCACTGCTTGCACTGAAGCCAGA

Phenotype

MIM: 148040

Polymorphism

C/T, Transition 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	1839	Missense Mutation			NP_000415.2

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