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- SNP ID:
- rs116855232
- Gene
-
NUDT15SUCLA2 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.13: 48045719 - 48045719 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
CCTGGACCAGCTTTTCTGGGGACTG[C/T]GTTGTTTAAAAGAACAAGGCTATGA
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 615792
MIM: 603921
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Literature Links: |
NUDT15 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
| NUDT15 - nudix hydrolase 15 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001304745.1 | 595 | Intron | NP_001291674.1 | |||
| NM_018283.3 | 595 | Missense Mutation | CGT,TGT | R,C 139 | NP_060753.1 | |
| SUCLA2 - succinate-CoA ligase ADP-forming beta subunit | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
Back To TopMore Information
Important Information
Assay C_154823200_10 detects the common NUDT15*2,*3 415C>T SNP, which is adjacent to the rare NUDT15*4 416G>A SNP that is detected by assay C_162697298_10. These two SNP assays can be used to detect the 3 possible haplotypes described for this locus (www.pharmvar.org/gene/NUDT15; minor alleles 415T and 416A do not occur together in a haplotype). Run both assays separately on the same samples and analyze data as described in the PGx Experiments User Guide (Pub. # MAN0009612) Chapter 5 section 'TaqMan DME genotyping assays to triallelic SNPs and adjacent SNP targets'.
Assay C_162697298_10 interrogates NUDT15*4 416G>A SNP (rs147390019).Gene Ontology Categories:
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