Product Details

SNP ID
rs200049164
Assay Type
Functionally Tested
NCBI dbSNP Submissions
5
Location
Chr.1:15743168 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGCTCGAGTTCTCCCTCCGGGCC[A/G]TGTCCACGCTGCTGTCCCTGGGCAA
Phenotype
MIM: 609613 MIM: 610817
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
PLEKHM2 PubMed Links
Additional Information
For this assay, SNP(s) [rs61740067] are located under a probe 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
PLEKHM2
Gene Name
pleckstrin homology and RUN domain containing M2
There are no transcripts associated with this gene.

Gene
SLC25A34
Gene Name
solute carrier family 25 member 34
There are no transcripts associated with this gene.

Gene
TMEM82
Gene Name
transmembrane protein 82
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001013641.2 378 Missense Mutation ATG,GTG M104V NP_001013663.1

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