Product Details

SNP ID
rs4925134
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:18016521 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGTGAAAGATATTAACCAATGAT[C/G]TGATGTAAGGAATCGGGCTTTGGTT
Phenotype
MIM: 608918
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ATPAF2 PubMed Links

Gene Details

Gene
ATPAF2
Gene Name
ATP synthase mitochondrial F1 complex assembly factor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_145691.3 Intron NP_663729.1
Gene
DRC3
Gene Name
dynein regulatory complex subunit 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130090.1 Intron NP_001123562.1
NM_001130091.1 Intron NP_001123563.1
NM_001130092.1 Intron NP_001123564.1
NM_031294.3 Intron NP_112584.3

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