Product Details

SNP ID
rs111895497
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18900384 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAGCCCTGGGGGCCGCTTACCTC[A/C]GGGGGCTTGCCCAGGTGCTGGGACA
Phenotype
MIM: 606919 MIM: 606942 MIM: 602880
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CERS1 PubMed Links

Gene Details

Gene
CERS1
Gene Name
ceramide synthase 1
There are no transcripts associated with this gene.

Gene
COPE
Gene Name
coatomer protein complex subunit epsilon
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007263.3 830 Silent Mutation CCG,CCT P267P NP_009194.2
NM_199442.1 830 Silent Mutation CCG,CCT P216P NP_955474.1
NM_199444.1 830 Silent Mutation CCG,CCT P215P NP_955476.1
XM_011527655.1 830 Silent Mutation CCG,CCT P290P XP_011525957.1
XM_011527656.1 830 Silent Mutation CCG,CCT P238P XP_011525958.1
Gene
GDF1
Gene Name
growth differentiation factor 1
There are no transcripts associated with this gene.

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