Product Details

SNP ID
rs144459016
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81229163 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGCTGTCCGTGCCCCCTGGGATC[C/T]GTTCAGGTCTCCACCGCCTGCTTTC
Phenotype
MIM: 613479
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CEP131 PubMed Links
Additional Information
For this assay, SNP(s) [rs2048057] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
CEP131
Gene Name
centrosomal protein 131
There are no transcripts associated with this gene.

Gene
LOC105371925
Gene Name
uncharacterized LOC105371925
There are no transcripts associated with this gene.

Gene
TEPSIN
Gene Name
TEPSIN, adaptor related protein complex 4 accessory protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_144679.2 2646 Missense Mutation CAG,CGG Q448R NP_653280.1
XM_005257066.2 2646 Missense Mutation CAG,CGG Q726R XP_005257123.1
XM_005257067.2 2646 Missense Mutation CAG,CGG Q516R XP_005257124.1
XM_006721709.3 2646 Missense Mutation CAG,CGG Q518R XP_006721772.1
XM_006721712.2 2646 Missense Mutation CAG,CGG Q364R XP_006721775.1
XM_011524355.1 2646 Missense Mutation CAG,CGG Q728R XP_011522657.1
XM_011524356.1 2646 Missense Mutation CAG,CGG Q660R XP_011522658.1
XM_011524357.1 2646 Missense Mutation CAG,CGG Q511R XP_011522659.1
XM_011524358.2 2646 Missense Mutation CAG,CGG Q511R XP_011522660.1
XM_017024202.1 2646 Missense Mutation CAG,CGG Q559R XP_016879691.1
XM_017024203.1 2646 Missense Mutation CAG,CGG Q538R XP_016879692.1
XM_017024204.1 2646 Missense Mutation CAG,CGG Q511R XP_016879693.1

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