Product Details

SNP ID
rs199588307
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:50134691 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATCTCCCAACTCTCAAAGAGGGTC[A/G]TGTTCAGAATCCTAGAAGAGGGAGG
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 1120 Missense Mutation ACG,ATG T237M NP_001268660.1
NM_147190.3 1120 Missense Mutation ACG,ATG T295M NP_671723.1
XM_005269220.2 1120 Missense Mutation ACG,ATG T295M XP_005269277.1
XM_006719687.3 1120 Missense Mutation ACG,ATG T295M XP_006719750.1
XM_011538975.2 1120 Missense Mutation ACG,ATG T295M XP_011537277.1
XM_017020202.1 1120 Missense Mutation ACG,ATG T237M XP_016875691.1
XM_017020203.1 1120 Missense Mutation ACG,ATG T237M XP_016875692.1
XM_017020204.1 1120 Intron XP_016875693.1
XM_017020205.1 1120 Missense Mutation ACG,ATG T151M XP_016875694.1

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