Product Details

SNP ID
rs141613719
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:46086195 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGTGGCAGCATCGAGGTCAGAACC[A/G]AACTGGGCAAAAGCAGCAACCTCAC
Phenotype
MIM: 164360
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ATP5A1 PubMed Links

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 1469 Silent Mutation TTC,TTT F399F NP_001001935.1
NM_001001937.1 1469 Silent Mutation TTC,TTT F449F NP_001001937.1
NM_001257334.1 1469 Silent Mutation TTC,TTT F427F NP_001244263.1
NM_001257335.1 1469 Silent Mutation TTC,TTT F399F NP_001244264.1
NM_004046.5 1469 Silent Mutation TTC,TTT F449F NP_004037.1
XM_017025789.1 1469 Silent Mutation TTC,TTT F449F XP_016881278.1

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