Product Details

SNP ID
rs145867712
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:721425 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGCCCGGCTTCCGGCGCGTGCCG[C/T]TGCGGCTGCAGGTGCGGGGCGGGGC
Phenotype
MIM: 614666 MIM: 610998 MIM: 611118
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CCDC78 PubMed Links
Additional Information
For this assay, SNP(s) [rs149844405] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
CCDC78
Gene Name
coiled-coil domain containing 78
There are no transcripts associated with this gene.

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_001271285.1 284 Silent Mutation CTG,TTG L51L NP_001258214.1
NM_023933.2 284 Silent Mutation CTG,TTG L51L 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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