Product Details

SNP ID

rs151147550

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:30396529 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGGCTATGGCGTTGGATTCTGCC[A/G]CCCAACCTACTTGGCTTCTAGGAGC

Phenotype

MIM: 608718

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KRTAP13-1 PubMed Links

Gene Details

Gene

KRTAP13-1

Gene Name

keratin associated protein 13-1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_181599.2	456	Missense Mutation	CAC,CGC	H148R	NP_853630.2

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