Product Details

SNP ID
rs138024799
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:26514459 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTTCTGCCCGGTGGAAGGGTCCT[C/T]GGAGAACAAGACCATCGACTTCGAC
Phenotype
MIM: 602463 MIM: 603970
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DPYSL2 PubMed Links

Gene Details

Gene
DPYSL2
Gene Name
dihydropyrimidinase like 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001197293.2 267 Missense Mutation TCG,TTG S45L NP_001184222.1
NM_001244604.1 267 Intron NP_001231533.1
NM_001386.5 267 Intron NP_001377.1
Gene
PNMA2
Gene Name
paraneoplastic Ma antigen 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007257.5 267 Intron NP_009188.1
XM_011544365.2 267 Intron XP_011542667.1

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