Product Details

SNP ID
rs144490908
Assay Type
Functionally tested
NCBI dbSNP Submissions
7
Location
Chr.1:1490316 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTTCGACTGTGCCATCAACAGCC[A/G]CATTGACGTGATGGTCCACTTCGAC
Phenotype
MIM: 612317
Polymorphism
A/G, 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 1694 Missense Mutation CAC,CGC H420R NP_001304167.1
NM_031921.5 1694 Missense Mutation CAC,CGC H466R NP_114127.3
XM_005244806.3 1694 Missense Mutation CAC,CGC H466R XP_005244863.1
XM_011542241.2 1694 UTR 3 XP_011540543.1
XM_011542243.2 1694 Missense Mutation CAC,CGC H298R XP_011540545.1
XM_011542244.1 1694 Missense Mutation CAC,CGC H514R XP_011540546.1

View Full Product Details