Product Details

SNP ID
rs118090380
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:28773773 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACACAAGCGAGAGGAGGAGGAGGA[G/T]GATGAGTAAGTTTCAGTGGTTGTTT
Phenotype
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CCDC117 PubMed Links

Gene Details

Gene
CCDC117
Gene Name
coiled-coil domain containing 117
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001284263.1 410 Intron NP_001271192.1
NM_001284264.1 410 Missense Mutation GAG,GAT E78D NP_001271193.1
NM_001284265.1 410 UTR 5 NP_001271194.1
NM_173510.3 410 Missense Mutation GAG,GAT E78D NP_775781.1

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