Product Details

SNP ID
rs199677163
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:21634289 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGCCGCTTGTGGAGGTGCAGGAC[A/C]CAGTGGAGGTGCCAAGTGGTGGACG
Phenotype
MIM: 607551
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CCDC116 PubMed Links

Gene Details

Gene
CCDC116
Gene Name
coiled-coil domain containing 116
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152612.2 652 Missense Mutation ACA,CCA T114P NP_689825.2
XM_006724159.2 652 Missense Mutation ACA,CCA T180P XP_006724222.1
XM_011529984.2 652 Missense Mutation ACA,CCA T79P XP_011528286.1
XM_011529985.1 652 Missense Mutation ACA,CCA T180P XP_011528287.1
Gene
SDF2L1
Gene Name
stromal cell derived factor 2 like 1
There are no transcripts associated with this gene.

Gene
YDJC
Gene Name
YdjC homolog (bacterial)
There are no transcripts associated with this gene.

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