Product Details

SNP ID
rs141141442
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:723003 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTGGCCCGGACCAGCAGCTGTGCC[C/T]GCTCCCGTTCCAGCTCTGCCTGGCA
Phenotype
MIM: 614666 MIM: 610998 MIM: 611118
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CCDC78 PubMed Links

Gene Details

Gene
CCDC78
Gene Name
coiled-coil domain containing 78
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001031737.2 1593 Missense Mutation NP_001026907.2
XM_006720838.1 1593 Missense Mutation XP_006720901.1
XM_006720843.3 1593 Missense Mutation XP_006720906.1
XM_011522356.1 1593 Missense Mutation XP_011520658.1
XM_011522357.1 1593 Missense Mutation XP_011520659.1
XM_011522358.2 1593 Missense Mutation XP_011520660.1
XM_011522359.1 1593 Missense Mutation XP_011520661.1
XM_011522360.1 1593 Missense Mutation XP_011520662.1
XM_011522361.1 1593 Missense Mutation XP_011520663.1
XM_011522362.1 1593 Missense Mutation XP_011520664.1
XM_011522363.1 1593 Missense Mutation XP_011520665.1
XM_011522364.1 1593 Missense Mutation XP_011520666.1
XM_011522365.1 1593 Missense Mutation XP_011520667.1
XM_011522366.1 1593 Missense Mutation XP_011520668.1
XM_011522367.1 1593 Missense Mutation XP_011520669.1
XM_011522368.1 1593 Missense Mutation XP_011520670.1
XM_011522369.1 1593 Missense Mutation XP_011520671.1
XM_011522370.1 1593 Missense Mutation XP_011520672.1
XM_011522371.2 1593 Missense Mutation XP_011520673.1
XM_017022929.1 1593 Missense Mutation XP_016878418.1
XM_017022930.1 1593 Missense Mutation XP_016878419.1
XM_017022931.1 1593 Missense Mutation XP_016878420.1
XM_017022932.1 1593 Missense Mutation XP_016878421.1
Gene
FAM173A
Gene Name
family with sequence similarity 173 member A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271285.1 1593 Intron NP_001258214.1
NM_023933.2 1593 Intron NP_076422.1
Gene
HAGHL
Gene Name
hydroxyacylglutathione hydrolase-like
There are no transcripts associated with this gene.

Gene
METRN
Gene Name
meteorin, glial cell differentiation regulator
There are no transcripts associated with this gene.

Gene
NARFL
Gene Name
nuclear prelamin A recognition factor like
There are no transcripts associated with this gene.

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