Product Details

SNP ID
rs150543128
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.18:46087107 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAAAGCAGTCAAGGAGCCACCACC[A/G]AAAGCATCGTTCATTTTGGCTGCTC
Phenotype
MIM: 164360
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
ATP5A1 PubMed Links
Additional Information
For this assay, SNP(s) [rs8097521] 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
ATP5A1
Gene Name
ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001935.2 1199 Silent Mutation TTC,TTT F309F NP_001001935.1
NM_001001937.1 1199 Silent Mutation TTC,TTT F359F NP_001001937.1
NM_001257334.1 1199 Silent Mutation TTC,TTT F337F NP_001244263.1
NM_001257335.1 1199 Silent Mutation TTC,TTT F309F NP_001244264.1
NM_004046.5 1199 Silent Mutation TTC,TTT F359F NP_004037.1
XM_017025789.1 1199 Silent Mutation TTC,TTT F359F XP_016881278.1

View Full Product Details