Product Details

SNP ID

rs200443432

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:41460135 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGTAGCGGCCCTGGGGGCAGGGT[G/T]AGCAAGGCATGCCAACAGTGCGTGG

Phenotype

MIM: 602760

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

KRT32 PubMed Links

Gene Details

Gene

KRT32

Gene Name

keratin 32

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002278.3	1383	Nonsense Mutation	TAA,TCA	*441S	NP_002269.3

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