Product Details

SNP ID
rs200806223
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18900414 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTGCCCAGGTGCTGGGACAGGAC[A/G]ATGAGGTTGACCAGCGTCTCTGGGT
Phenotype
MIM: 606919 MIM: 606942 MIM: 602880
Polymorphism
A/G, 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_007263.3 800 Silent Mutation ATC,ATT I257I NP_009194.2
NM_199442.1 800 Silent Mutation ATC,ATT I206I NP_955474.1
NM_199444.1 800 Silent Mutation ATC,ATT I205I NP_955476.1
XM_011527655.1 800 Silent Mutation ATC,ATT I280I XP_011525957.1
XM_011527656.1 800 Silent Mutation ATC,ATT I228I XP_011525958.1
Gene
GDF1
Gene Name
growth differentiation factor 1
There are no transcripts associated with this gene.

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