Product Details

SNP ID
rs3752555
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:721750 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGCCGCCCCACACCGCCCACCTGC[C/T]GGCGGGCGCCCCTGCCCACATCCTG
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 Intron NP_001026907.2
XM_006720838.1 Intron XP_006720901.1
XM_006720843.3 Intron XP_006720906.1
XM_011522356.1 Intron XP_011520658.1
XM_011522357.1 Intron XP_011520659.1
XM_011522358.2 Intron XP_011520660.1
XM_011522359.1 Intron XP_011520661.1
XM_011522360.1 Intron XP_011520662.1
XM_011522361.1 Intron XP_011520663.1
XM_011522362.1 Intron XP_011520664.1
XM_011522363.1 Intron XP_011520665.1
XM_011522364.1 Intron XP_011520666.1
XM_011522365.1 Intron XP_011520667.1
XM_011522366.1 Intron XP_011520668.1
XM_011522367.1 Intron XP_011520669.1
XM_011522368.1 Intron XP_011520670.1
XM_011522369.1 Intron XP_011520671.1
XM_011522370.1 Intron XP_011520672.1
XM_011522371.2 Intron XP_011520673.1
XM_017022929.1 Intron XP_016878418.1
XM_017022930.1 Intron XP_016878419.1
XM_017022931.1 Intron XP_016878420.1
XM_017022932.1 Intron 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 Intron NP_001258214.1
NM_023933.2 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.

View Full Product Details