Product Details

SNP ID
rs200932097
Assay Type
Functionally Tested
NCBI dbSNP Submissions
3
Location
Chr.1:26284419 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCATCAGCTGCCTGCCCACCACAC[A/G]GCCCTCGCCTGGGAAGGGGTCCAGT
Phenotype
MIM: 615679 MIM: 609151
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CEP85 PubMed Links

Gene Details

Gene
CEP85
Gene Name
centrosomal protein 85
There are no transcripts associated with this gene.

Gene
SH3BGRL3
Gene Name
SH3 domain binding glutamate rich protein like 3
There are no transcripts associated with this gene.

Gene
UBXN11
Gene Name
UBX domain protein 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001077262.1 704 Missense Mutation CGT,TGT R186C NP_001070730.1
NM_145345.2 704 Missense Mutation CGT,TGT R273C NP_663320.2
NM_183008.2 704 Missense Mutation CGT,TGT R306C NP_892120.2

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