Product Details

SNP ID

rs142606051

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52567144 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCCGCAGAGCTGGGGTGGTGGTAG[A/C]TGTAGCTGCTACTGCTGATGACAGC

Phenotype

MIM: 608248

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

KRT74 PubMed Links

Gene Details

Gene

KRT74

Gene Name

keratin 74

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_175053.3	1463	Missense Mutation	AGC,ATC	S472I	NP_778223.2

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