Product Details

SNP ID
rs142873927
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:123323004 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAATACATTGGCTGATTACTGCATA[C/T]AAATTTTCCAACTGAAATATGTTGT
Phenotype
MIM: 611941
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATAD2 PubMed Links

Gene Details

Gene
ATAD2
Gene Name
ATPase family, AAA domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014109.3 2593 Silent Mutation NP_054828.2
XM_011516994.2 2593 Missense Mutation XP_011515296.1
XM_011516995.2 2593 Intron XP_011515297.1
XM_011516996.2 2593 Missense Mutation XP_011515298.1

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