Product Details

SNP ID
rs200942166
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:1489224 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCAGGAGGAGATAAGCAAGGACCT[C/T]AGAGCCACACTGAACGCCTTCCTGT
Phenotype
MIM: 612317
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATAD3B PubMed Links

Gene Details

Gene
ATAD3B
Gene Name
ATPase family, AAA domain containing 3B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317238.1 1584 Silent Mutation CTC,CTT L383L NP_001304167.1
NM_031921.5 1584 Silent Mutation CTC,CTT L429L NP_114127.3
XM_005244806.3 1584 Silent Mutation CTC,CTT L429L XP_005244863.1
XM_011542241.2 1584 Silent Mutation CTC,CTT L429L XP_011540543.1
XM_011542243.2 1584 Silent Mutation CTC,CTT L261L XP_011540545.1
XM_011542244.1 1584 Silent Mutation CTC,CTT L477L XP_011540546.1

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