Product Details

SNP ID
rs138365408
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:619095 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTCTGAAATCTTTGGATCTCTCGC[A/G]CAACTCCTTGGTTAGTCTGGAGGTA
Phenotype
MIM: 616475
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CEP72 PubMed Links

Gene Details

Gene
CEP72
Gene Name
centrosomal protein 72
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018140.3 206 Missense Mutation CAC,CGC H63R NP_060610.2
XM_005248322.3 206 Missense Mutation CAC,CGC H13R XP_005248379.1
XM_011514063.1 206 Missense Mutation CAC,CGC H63R XP_011512365.1
XM_011514064.2 206 Missense Mutation CAC,CGC H13R XP_011512366.1
XM_017009626.1 206 UTR 5 XP_016865115.1
XM_017009627.1 206 UTR 5 XP_016865116.1
Gene
LOC100996325
Gene Name
uncharacterized LOC100996325
There are no transcripts associated with this gene.

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