Product Details

SNP ID
rs61737191
Assay Type
Functionally tested
NCBI dbSNP Submissions
17
Location
Chr.1:1490296 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCCAGCAATCTGCCTGAGCAGTT[C/T]GACTGTGCCATCAACAGCCGCATTG
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 1674 Silent Mutation TTC,TTT F413F NP_001304167.1
NM_031921.5 1674 Silent Mutation TTC,TTT F459F NP_114127.3
XM_005244806.3 1674 Missense Mutation TTC,TTT F459F XP_005244863.1
XM_011542241.2 1674 UTR 3 XP_011540543.1
XM_011542243.2 1674 Missense Mutation TTC,TTT F291F XP_011540545.1
XM_011542244.1 1674 Missense Mutation TTC,TTT F507F XP_011540546.1

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