Product Details

SNP ID
rs148804210
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:21634080 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGCGGCCAGCCTGCAAGCCGGGCC[A/G]TGTGCCACACCCACCATCCACATGT
Phenotype
MIM: 607551
Polymorphism
A/G, Transition 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_152612.2 443 Missense Mutation CAT,CGT H44R NP_689825.2
XM_006724159.2 443 Missense Mutation CAT,CGT H110R XP_006724222.1
XM_011529984.2 443 Missense Mutation CAT,CGT H9R XP_011528286.1
XM_011529985.1 443 Missense Mutation CAT,CGT H110R 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.

View Full Product Details