Product Details

SNP ID
rs146324792
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:103552293 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATTTCTGTAGACACTGCTAGAGCT[A/G]AGCAACCAATCATTAAGGAGGAAGG
Phenotype
MIM: 609232
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NUDT12 PubMed Links

Gene Details

Gene
NUDT12
Gene Name
nudix hydrolase 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001300741.1 1253 Missense Mutation TCA,TTA S383L NP_001287670.1
NM_031438.3 1253 Missense Mutation TCA,TTA S401L NP_113626.1
XM_005272095.1 1253 Missense Mutation TCA,TTA S401L XP_005272152.1
XM_005272097.3 1253 Missense Mutation TCA,TTA S383L XP_005272154.1

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