Product Details

SNP ID
rs201016505
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:57029152 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCACTTCTCAGTCACGGTGACTGT[A/G]AGCTGCCTCTGCGTGGCATCCAGCA
Phenotype
MIM: 601478
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
MYO1A PubMed Links
Additional Information
For this assay, SNP(s) [rs17119344] 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
MYO1A
Gene Name
myosin IA
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256041.1 3236 Silent Mutation CTC,CTT L995L NP_001242970.1
NM_005379.3 3236 Silent Mutation CTC,CTT L995L NP_005370.1
XM_011538373.2 3236 Intron XP_011536675.1

View Full Product Details