Product Details

SNP ID
rs201827979
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:50177400 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTGTTTTGCCAGGTTGTTTTTCC[C/T]ACATTCCCATTCTTCTTAGAAGCCT
Phenotype
MIM: 615335 MIM: 608364
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CERS5 PubMed Links

Gene Details

Gene
CERS5
Gene Name
ceramide synthase 5
There are no transcripts associated with this gene.

Gene
LIMA1
Gene Name
LIM domain and actin binding 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001113546.1 2002 Silent Mutation GTA,GTG V649V NP_001107018.1
NM_001113547.1 2002 Silent Mutation GTA,GTG V489V NP_001107019.1
NM_001243775.1 2002 Silent Mutation GTA,GTG V346V NP_001230704.1
NM_016357.4 2002 Silent Mutation GTA,GTG V648V NP_057441.1
XM_011538455.2 2002 Silent Mutation GTA,GTG V649V XP_011536757.1
XM_017019429.1 2002 Silent Mutation GTA,GTG V347V XP_016874918.1
XM_017019430.1 2002 Silent Mutation GTA,GTG V346V XP_016874919.1

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