Product Details

SNP ID

rs147918934

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:30396576 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCTGCCAGTCTTCTTGCTACAGA[A/C]CAACTTGTGGATCAGGCTTCTACTA

Phenotype

MIM: 608718

Polymorphism

A/C, Transversion 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	503	Missense Mutation	ACA,CCA	T164P	NP_853630.2

View Full Product Details