Product Details

SNP ID
rs74756813
Assay Type
Functionally tested
NCBI dbSNP Submissions
15
Location
Chr.1:225985342 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCAAAGGCTTGGCAAATAAAGCC[A/G]GGTCAATTTGCTCCTTTGCCAGTCC
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SDE2 PubMed Links

Gene Details

Gene
SDE2
Gene Name
SDE2 telomere maintenance homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152608.3 1369 Missense Mutation CCG,CTG P439L NP_689821.3

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