Product Details

SNP ID
rs113117749
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:107378021 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGAAGAAGGTGACAGAACTGGAAA[A/T]TCAGAATTCCTGCTCCACGATACAT
Phenotype
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
CCDC54 PubMed Links

Gene Details

Gene
CCDC54
Gene Name
coiled-coil domain containing 54
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032600.2 681 Missense Mutation AAT,ATT N145I NP_115989.1
Gene
LOC101929579
Gene Name
uncharacterized LOC101929579
There are no transcripts associated with this gene.

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