Product Details

SNP ID
rs201912144
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:85873239 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAAATAAAGGAAGATGCCGTGGAG[A/C]AATTCATGTTTCAAATAAAGACACT
Phenotype
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CCDC83 PubMed Links

Gene Details

Gene
CCDC83
Gene Name
coiled-coil domain containing 83
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286159.1 636 Missense Mutation AAA,CAA K42Q NP_001273088.1
NM_173556.4 636 Missense Mutation AAA,CAA K42Q NP_775827.2
XM_011544839.2 636 Missense Mutation AAA,CAA K42Q XP_011543141.1
XM_011544840.2 636 Missense Mutation AAA,CAA K42Q XP_011543142.1
XM_011544841.1 636 Missense Mutation AAA,CAA K42Q XP_011543143.1
XM_011544842.1 636 Missense Mutation AAA,CAA K42Q XP_011543144.1
XM_011544843.1 636 Missense Mutation AAA,CAA K42Q XP_011543145.1
XM_011544844.2 636 Intron XP_011543146.1
XM_017017354.1 636 Missense Mutation AAA,CAA K42Q XP_016872843.1
XM_017017355.1 636 Missense Mutation AAA,CAA K42Q XP_016872844.1

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