Product Details

SNP ID
rs148953950
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:1518938 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCTCAGCAACTTCTCAATGAGGA[G/T]AATTTACGGAAGCAGGAGGAGTCCG
Phenotype
MIM: 612316 MIM: 612317
Polymorphism
G/T, 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_001170535.1 732 Missense Mutation GAG,GAT E154D NP_001164006.1
NM_001170536.1 732 Missense Mutation GAG,GAT E75D NP_001164007.1
NM_018188.3 732 Missense Mutation GAG,GAT E202D NP_060658.3
XM_017001628.1 732 Missense Mutation GAG,GAT E154D XP_016857117.1
Gene
ATAD3B
Gene Name
ATPase family, AAA domain containing 3B
There are no transcripts associated with this gene.

View Full Product Details