Product Details

SNP ID

rs146356563

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:30337184 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGATTCAGGGTTCTGAGACTGACAC[C/T]GACATTGGCTAGATGCACGTTCCAG

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KRTAP27-1 PubMed Links

Gene Details

Gene

KRTAP27-1

Gene Name

keratin associated protein 27-1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077711.1	511	Missense Mutation	CAG,CGG	Q162R	NP_001071179.1

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