Product Details

SNP ID
rs202084322
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:116850698 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAAGTTCTAACTCTGGTATTAGCT[A/G]ACAGATATTTGGAGGTTCTTCTGGG
Phenotype
MIM: 606462
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
RAD21 PubMed Links

Gene Details

Gene
RAD21
Gene Name
RAD21 cohesin complex component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006265.2 1828 Nonsense Mutation CAG,TAG Q514* NP_006256.1

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