Product Details

SNP ID
rs139881258
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:24793960 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTTACGTCCAGATGGCGAGTCCA[A/G]AGGAGGTATTCAGAGGGTCGCCGCC
Phenotype
MIM: 611504
Polymorphism
A/G, Transition 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_001199803.2 515 Intron NP_001186732.1
NM_001322101.1 515 Missense Mutation AAA,AGA K14R NP_001309030.1
NM_024322.3 515 Missense Mutation AAA,AGA K14R 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_001013663.1 515 Intron NP_001013685.1

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