Product Details

SNP ID
rs202213989
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:90953710 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTGCTCGTTCTCCTCCAGGACCT[A/C]CTCTTCCTCTTCCAGCTCCTCCTCT
Phenotype
MIM: 601657
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CCER1 PubMed Links

Gene Details

Gene
CCER1
Gene Name
coiled-coil glutamate rich protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152638.3 1467 Nonsense Mutation GAG,TAG E345* NP_689851.1
Gene
EPYC
Gene Name
epiphycan
There are no transcripts associated with this gene.

Gene
LINC00615
Gene Name
long intergenic non-protein coding RNA 615
There are no transcripts associated with this gene.

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