Product Details

SNP ID
rs144675607
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:1523862 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCCAGCCTGGAAGCACGGGTGCG[C/T]GACATCGCCATAGCAACAAGGAACA
Phenotype
MIM: 612316
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATAD3A PubMed Links

Gene Details

Gene
ATAD3A
Gene Name
ATPase family, AAA domain containing 3A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001170535.1 1257 Silent Mutation CGC,CGT R329R NP_001164006.1
NM_001170536.1 1257 Silent Mutation CGC,CGT R250R NP_001164007.1
NM_018188.3 1257 Silent Mutation CGC,CGT R377R NP_060658.3
XM_017001628.1 1257 Silent Mutation CGC,CGT R329R XP_016857117.1

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