Product Details

SNP ID
rs150580064
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:1523901 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAACAAGGAACACCAAGAAGAACCG[A/C]AGCCTGTACAGGAACATCCTGATGT
Phenotype
MIM: 612316
Polymorphism
A/C, Transversion 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 1296 Silent Mutation CGA,CGC R342R NP_001164006.1
NM_001170536.1 1296 Silent Mutation CGA,CGC R263R NP_001164007.1
NM_018188.3 1296 Silent Mutation CGA,CGC R390R NP_060658.3
XM_017001628.1 1296 Silent Mutation CGA,CGC R342R XP_016857117.1

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