Product Details

SNP ID
rs111663466
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:50134409 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGGCAAAACACTTACCGAAGAGGC[A/G]AAGACTTTGGAGCCCTAGGCTTTTT
Phenotype
MIM: 615335
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CERS5 PubMed Links

Gene Details

Gene
CERS5
Gene Name
ceramide synthase 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001281731.1 1238 Intron NP_001268660.1
NM_147190.3 1238 Intron NP_671723.1
XM_005269220.2 1238 Missense Mutation TCG,TTG S389L XP_005269277.1
XM_006719687.3 1238 Intron XP_006719750.1
XM_011538975.2 1238 Intron XP_011537277.1
XM_017020202.1 1238 Intron XP_016875691.1
XM_017020203.1 1238 Intron XP_016875692.1
XM_017020204.1 1238 Intron XP_016875693.1
XM_017020205.1 1238 Intron XP_016875694.1

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