Product Details

SNP ID
rs142866528
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:46334406 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCCTCCCCTTCTTAGCCGGAGGAC[G/T]GTGATGGAGAGAAGAGAGAGGACTT
Phenotype
MIM: 605925
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
PCNT PubMed Links

Gene Details

Gene
PCNT
Gene Name
pericentrin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001315529.1 572 UTR 5 NP_001302458.1
NM_006031.5 572 Missense Mutation GGT,TGT G93C NP_006022.3
XM_005261124.4 572 Missense Mutation GGT,TGT G93C XP_005261181.1
XM_011529594.2 572 Missense Mutation GGT,TGT G93C XP_011527896.1
XM_017028362.1 572 Missense Mutation GGT,TGT G93C XP_016883851.1
XM_017028363.1 572 UTR 5 XP_016883852.1

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