Product Details

SNP ID
rs149159438
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:99460096 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACAAGGCTCTGACCTCTTTGAAA[C/T]GCTCCGAAAATGCCACTAGGACTGA
Phenotype
MIM: 603052
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATP5J2 PubMed Links

Gene Details

Gene
ATP5J2
Gene Name
ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001003713.2 189 Silent Mutation NP_001003713.1
NM_001003714.2 189 Silent Mutation NP_001003714.1
NM_001039178.2 189 Silent Mutation NP_001034267.1
NM_004889.3 189 Silent Mutation NP_004880.1
Gene
ATP5J2-PTCD1
Gene Name
ATP5J2-PTCD1 readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001198879.1 189 Silent Mutation NP_001185808.1
Gene
CPSF4
Gene Name
cleavage and polyadenylation specific factor 4
There are no transcripts associated with this gene.

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