Product Details

SNP ID

rs139700002

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24506158 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCTCTTGCAGAGTGTCTGAGCCC[G/T]GCTTCAACACACCTGTTCTTCCCCA

Phenotype

MIM: 118938

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

CMA1 PubMed Links

Additional Information

For this assay, SNP(s) [rs5249] 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

CMA1

Gene Name

chymase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308083.1	349	Missense Mutation			NP_001295012.1
NM_001836.4	349	Missense Mutation			NP_001827.1

Gene

LOC101927045

Gene Name

uncharacterized LOC101927045

There are no transcripts associated with this gene.

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