Product Details

SNP ID
rs147875545
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:173803138 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTTTGTGGACACTGTCCCATAGA[G/T]CTTTTGCATCCTCTGGATGTATTGC
Phenotype
MIM: 611503
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CENPL PubMed Links

Gene Details

Gene
CENPL
Gene Name
centromere protein L
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001127181.2 1391 Missense Mutation GAT,GCT D309A NP_001120653.1
NM_001171182.1 1391 Missense Mutation GAT,GCT D263A NP_001164653.1
NM_033319.3 1391 Missense Mutation GAT,GCT D263A NP_201576.1

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