Product Details

SNP ID
rs200686343
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:168456459 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGGACAAAGCAAGATGGCAGGGA[C/T]CTTAGCCTGGTTCTGGAACGAGAGG
Phenotype
MIM: 615336
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CERS6 PubMed Links

Gene Details

Gene
CERS6
Gene Name
ceramide synthase 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256126.1 211 Missense Mutation ACC,ATC T4I NP_001243055.1
NM_203463.2 211 Missense Mutation ACC,ATC T4I NP_982288.1
XM_005246440.4 211 Intron XP_005246497.1
XM_017003749.1 211 Intron XP_016859238.1

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