Product Details

SNP ID
rs111303074
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18903279 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCTTGTGCCTACCTTGTCTAGCG[C/T]CTCCTGCAGCAGGCCCTCAGCGGCC
Phenotype
MIM: 606919 MIM: 606942 MIM: 602880
Polymorphism
C/T, Transition 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_007263.3 766 Missense Mutation ACG,GCG T242A NP_009194.2
NM_199442.1 766 Missense Mutation ACG,GCG T191A NP_955474.1
NM_199444.1 766 Intron NP_955476.1
XM_011527655.1 766 Missense Mutation ACG,GCG T265A XP_011525957.1
XM_011527656.1 766 Intron XP_011525958.1
Gene
GDF1
Gene Name
growth differentiation factor 1
There are no transcripts associated with this gene.

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