Product Details

SNP ID
rs17076541
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:44243954 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGAAGAATTGAAGTTAAGCTGTC[A/G]GAGAACAATACCTATGACTGGTAAA
Phenotype
MIM: 614412
Polymorphism
A/G, Transition 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 1616 Missense Mutation CAG,CGG Q483R NP_001138502.1
XM_011533694.2 1616 Missense Mutation CAG,CGG Q483R XP_011531996.1
XM_017006361.1 1616 Missense Mutation CAG,CGG Q483R XP_016861850.1
XM_017006362.1 1616 Missense Mutation CAG,CGG Q483R XP_016861851.1

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