Product Details

SNP ID
rs199673928
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:94372381 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTAGAGACAATGAATTTTTCCAAC[A/G]AATCACCTGTAATAAGTAAAACAAT
Phenotype
MIM: 604289
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
RAD54B PubMed Links

Gene Details

Gene
RAD54B
Gene Name
RAD54 homolog B (S. cerevisiae)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001205262.2 2653 Intron NP_001192191.1
NM_001205263.1 2653 Missense Mutation TCG,TTG S657L NP_001192192.1
NM_012415.3 2653 Missense Mutation TCG,TTG S841L NP_036547.1

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