Product Details

SNP ID
rs182358146
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:44244231 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTAATTCTAATTGTTTGTCTTCAGT[G/T]TCTGCAGTAGAACCTACTTTAATGG
Phenotype
MIM: 614412
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
TOPAZ1 PubMed Links

Gene Details

Gene
TOPAZ1
Gene Name
testis and ovary specific PAZ domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145030.1 1893 Silent Mutation GTG,GTT V575V NP_001138502.1
XM_011533694.2 1893 Silent Mutation GTG,GTT V575V XP_011531996.1
XM_017006361.1 1893 Silent Mutation GTG,GTT V575V XP_016861850.1
XM_017006362.1 1893 Silent Mutation GTG,GTT V575V XP_016861851.1

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