Product Details

SNP ID
rs140873087
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:24793162 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTGCGCATGCGCCCCAGCTCTTG[C/G]AGGTAAGCGGCTGTGTGCGGGTGGT
Phenotype
MIM: 611504
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CENPO PubMed Links

Gene Details

Gene
CENPO
Gene Name
centromere protein O
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199803.2 221 UTR 5 NP_001186732.1
NM_001322101.1 221 UTR 5 NP_001309030.1
NM_024322.3 221 UTR 5 NP_077298.1
Gene
PTRHD1
Gene Name
peptidyl-tRNA hydrolase domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001013663.1 221 Silent Mutation CTC,CTG L72L NP_001013685.1

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