Product Details

SNP ID

rs202048273

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.18:3067305 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTTTCAGGGACTCCAAGGCGGCC[A/C]TCCTCGCCTCCTCCTCTGGGATGAA

Phenotype

MIM: 603508

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

MYOM1 PubMed Links

Additional Information

For this assay, SNP(s) [rs2230164] 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

MYOM1

Gene Name

myomesin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003803.3	5076	Missense Mutation	AGG,ATG	R1672M	NP_003794.3
NM_019856.1	5076	Missense Mutation	AGG,ATG	R1576M	NP_062830.1
XM_017026062.1	5076	Missense Mutation	AGG,ATG	R1660M	XP_016881551.1

View Full Product Details