Product Details

SNP ID: rs200916228
Assay Type: Functionally Tested
NCBI dbSNP Submissions: NA
Location: Chr.12:52515108 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACCACCTAGGCCGACACCCCCACTG[C/T]TGCTGGAGTAGTAGCTTCCACTGCT
Phenotype: MIM: 148040
Polymorphism: C/T, Transition Substitution
Allele Nomenclature
Literature Links: KRT5 PubMed Links
Additional Information: For this assay, SNP(s) [rs11549950] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000424.3	1770	Missense Mutation	AAC,AGC	N536S	NP_000415.2