Product Details

SNP ID
rs138345513
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:42838183 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCTTTTCCGCTGGTGCATTGTAT[C/T]CTCCACAGTATAGTTGTGGTCACAG
Phenotype
MIM: 609520
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
THAP1 PubMed Links

Gene Details

Gene
THAP1
Gene Name
THAP domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018105.2 658 Missense Mutation AAT,GAT N141D NP_060575.1
NM_199003.1 658 UTR 3 NP_945354.1

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