Product Details

SNP ID
rs1132701
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:9867289 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCATGCTGAAGAGGGCCCAGCGGA[G/A]AGCTTCCCTGGGTGGAATGAGAGGG
Phenotype
MIM: 612120
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
CIDEC PubMed Links

Gene Details

Gene
CIDEC
Gene Name
cell death inducing DFFA like effector c
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199551.1 648 Missense Mutation CTC,TTC L198F NP_001186480.1
NM_001199552.1 648 Missense Mutation CTC,TTC L188F NP_001186481.1
NM_001199623.1 648 Missense Mutation CTC,TTC L201F NP_001186552.1
NM_001321142.1 648 Missense Mutation CTC,TTC L188F NP_001308071.1
NM_001321143.1 648 Missense Mutation CTC,TTC L114F NP_001308072.1
NM_001321144.1 648 Missense Mutation CTC,TTC L114F NP_001308073.1
NM_022094.3 648 Missense Mutation CTC,TTC L188F NP_071377.2

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