Product Details

SNP ID
rs150159387
Assay Type
Functionally tested
NCBI dbSNP Submissions
12
Location
Chr.1:1490346 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACGTGATGGTCCACTTCGACCTGC[C/T]GCAGCAGGAGGAGCGGGAGCGCCTG
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 1724 Missense Mutation CCG,CTG P430L NP_001304167.1
NM_031921.5 1724 Missense Mutation CCG,CTG P476L NP_114127.3
XM_005244806.3 1724 Missense Mutation CCG,CTG P476L XP_005244863.1
XM_011542241.2 1724 Intron XP_011540543.1
XM_011542243.2 1724 Missense Mutation CCG,CTG P308L XP_011540545.1
XM_011542244.1 1724 Missense Mutation CCG,CTG P524L XP_011540546.1

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