Product Details

SNP ID
rs112679778
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.4:127885873 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAACTGAAAATGCCACATGAAAAGC[A/G]CTATACATTATGTGGAACTCCTAAC
Phenotype
MIM: 605031
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
PLK4 PubMed Links

Gene Details

Gene
PLK4
Gene Name
polo like kinase 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001190799.1 937 Missense Mutation CAC,CGC H136R NP_001177728.1
NM_001190801.1 937 Missense Mutation CAC,CGC H127R NP_001177730.1
NM_014264.4 937 Missense Mutation CAC,CGC H168R NP_055079.3
XM_005262701.2 937 Missense Mutation CAC,CGC H168R XP_005262758.1
XM_017007662.1 937 Missense Mutation CAC,CGC H169R XP_016863151.1
XM_017007663.1 937 Missense Mutation CAC,CGC H169R XP_016863152.1

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