Product Details

SNP ID
rs199676691
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:48037903 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTCCCTGGAGGTCATCTGGAGTTC[C/G]GGTGAGCAGCCGCGGACGCGAGGAA
Phenotype
MIM: 615792 MIM: 603921
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
NUDT15 PubMed Links

Gene Details

Gene
NUDT15
Gene Name
nudix hydrolase 15
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304745.1 70 Missense Mutation CGT,GGT R53G NP_001291674.1
NM_018283.3 70 Missense Mutation CGT,GGT R53G NP_060753.1
Gene
SUCLA2
Gene Name
succinate-CoA ligase ADP-forming beta subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003850.2 70 Intron NP_003841.1
XM_017020806.1 70 UTR 5 XP_016876295.1
XM_017020807.1 70 Intron XP_016876296.1
XM_017020808.1 70 Intron XP_016876297.1
XM_017020809.1 70 Intron XP_016876298.1

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