Product Details

SNP ID
rs147013208
Assay Type
Functionally tested
NCBI dbSNP Submissions
7
Location
Chr.1:1490260 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCCCCATCCCTGTCCTACAGATT[C/T]ATGCTGGTCCTGGCCAGCAATCTGC
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 1638 Silent Mutation TTC,TTT F401F NP_001304167.1
NM_031921.5 1638 Silent Mutation TTC,TTT F447F NP_114127.3
XM_005244806.3 1638 Missense Mutation TTC,TTT F447F XP_005244863.1
XM_011542241.2 1638 UTR 3 XP_011540543.1
XM_011542243.2 1638 Missense Mutation TTC,TTT F279F XP_011540545.1
XM_011542244.1 1638 Missense Mutation TTC,TTT F495F XP_011540546.1

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