Product Details

SNP ID
rs8067997
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:18016719 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTCAAAACATAGCACCAGCCCCA[G/T]CCAGGAGAAGGAAGTGCACACGCCT
Phenotype
MIM: 608918
Polymorphism
G/T, 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 2000 Intron NP_663729.1
XM_005256848.3 2000 Intron XP_005256905.1
XM_011524065.1 2000 Intron XP_011522367.1
XM_017025302.1 2000 Intron XP_016880791.1
XM_017025303.1 2000 Intron XP_016880792.1
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 2000 UTR 3 NP_001123562.1
NM_001130091.1 2000 Intron NP_001123563.1
NM_001130092.1 2000 Intron NP_001123564.1
NM_031294.3 2000 UTR 3 NP_112584.3
XM_006721583.3 2000 UTR 3 XP_006721646.1
XM_011524018.2 2000 UTR 3 XP_011522320.1
XM_011524019.2 2000 UTR 3 XP_011522321.1
XM_011524020.2 2000 UTR 3 XP_011522322.1
XM_011524021.2 2000 UTR 3 XP_011522323.1
XM_011524022.2 2000 Intron XP_011522324.1
XM_011524023.2 2000 Intron XP_011522325.1
XM_011524025.2 2000 UTR 3 XP_011522327.1
XM_011524026.2 2000 UTR 3 XP_011522328.1

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