Product Details

SNP ID: rs143796505
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.18:46086165 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTAGACGCACGCCACGACTCAAAAG[C/T]TGTTGAGTGGCAGCATCGAGGTCAG
Phenotype: MIM: 164360
Polymorphism: C/T, 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	1499	Silent Mutation	CAA,CAG	Q409Q	NP_001001935.1
NM_001001937.1	1499	Silent Mutation	CAA,CAG	Q459Q	NP_001001937.1
NM_001257334.1	1499	Silent Mutation	CAA,CAG	Q437Q	NP_001244263.1
NM_001257335.1	1499	Silent Mutation	CAA,CAG	Q409Q	NP_001244264.1
NM_004046.5	1499	Silent Mutation	CAA,CAG	Q459Q	NP_004037.1
XM_017025789.1	1499	Silent Mutation	CAA,CAG	Q459Q	XP_016881278.1