Product Details

SNP ID
rs143219618
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:48297208 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGAAGGTCACGTGGCCCCCACTC[A/G]AGGCACTGGTGGAGCCGAAGGTCAC
Phenotype
MIM: 615038 MIM: 603996
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CCDC114 PubMed Links

Gene Details

Gene
CCDC114
Gene Name
coiled-coil domain containing 114
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_144577.3 1319 Missense Mutation TCG,TTG S594L NP_653178.3
XM_005259413.3 1319 Missense Mutation TCG,TTG S631L XP_005259470.1
XM_005259414.3 1319 Missense Mutation TCG,TTG S631L XP_005259471.1
XM_005259415.3 1319 Missense Mutation TCG,TTG S631L XP_005259472.1
XM_005259416.4 1319 Missense Mutation TCG,TTG S403L XP_005259473.1
XM_011527515.2 1319 Missense Mutation TCG,TTG S594L XP_011525817.1
XM_011527516.2 1319 Missense Mutation TCG,TTG S594L XP_011525818.1
XM_011527517.1 1319 Intron XP_011525819.1
XM_017027483.1 1319 Missense Mutation TCG,TTG S539L XP_016882972.1
Gene
ZNF114
Gene Name
zinc finger protein 114
There are no transcripts associated with this gene.

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