Product Details

SNP ID
rs142921068
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:46635875 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACATATATTTGAACTCATTTGGTCT[A/G]AGGTTAAAGGTCTCCACTAACCCGT
Phenotype
MIM: 608917
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ATPAF1 PubMed Links

Gene Details

Gene
ATPAF1
Gene Name
ATP synthase mitochondrial F1 complex assembly factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042546.2 945 Silent Mutation CTC,CTT L251L NP_001036011.2
NM_001243728.1 945 Silent Mutation CTC,CTT L208L NP_001230657.1
NM_001256418.1 945 Silent Mutation CTC,CTT L145L NP_001243347.1
NM_022745.4 945 Silent Mutation CTC,CTT L319L NP_073582.3

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