Product Details

SNP ID
rs149917956
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:123325900 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGATTTCAATTTACATACTTTTAAT[C/T]GCTCATGATCCACAACAAGTGAGGG
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 2523 Missense Mutation CAA,CGA Q1332R NP_054828.2
XM_011516994.2 2523 Missense Mutation CAA,CGA Q1202R XP_011515296.1
XM_011516995.2 2523 Intron XP_011515297.1
XM_011516996.2 2523 Missense Mutation CAA,CGA Q791R XP_011515298.1

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