Product Details

SNP ID
rs148775628
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81229064 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCAGCAGCCCCAGCCCCCACCAGG[C/T]GGGGACAGGCCACCAGCTCCATGCC
Phenotype
MIM: 613479
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CEP131 PubMed Links

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 2745 Missense Mutation NP_653280.1
XM_005257066.2 2745 Missense Mutation XP_005257123.1
XM_005257067.2 2745 Missense Mutation XP_005257124.1
XM_006721709.3 2745 Missense Mutation XP_006721772.1
XM_006721712.2 2745 Missense Mutation XP_006721775.1
XM_011524355.1 2745 Missense Mutation XP_011522657.1
XM_011524356.1 2745 Missense Mutation XP_011522658.1
XM_011524357.1 2745 Missense Mutation XP_011522659.1
XM_011524358.2 2745 Missense Mutation XP_011522660.1
XM_017024202.1 2745 Missense Mutation XP_016879691.1
XM_017024203.1 2745 Missense Mutation XP_016879692.1
XM_017024204.1 2745 Missense Mutation XP_016879693.1

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