Product Details

SNP ID

rs149812110

Assay Type

Functionally Tested

NCBI dbSNP Submissions

6

Location

Chr.1:152910065 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCACAGGAGCAGGAGCTGCAGCAA[C/T]AGCACTGGGAACAGCATGAGGAATA

Phenotype

MIM: 147360

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

IVL PubMed Links

Additional Information

For this assay, SNP(s) [rs200220063] 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

Gene

IVL

Gene Name

involucrin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005547.2	314	Nonsense Mutation	CAG,TAG	Q90*	NP_005538.2

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