Product Details

SNP ID
rs199587205
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:6361711 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCAGAACGGCCTGGCCCTGCAGC[G/T]GTGCCTGCACGCGACGGCGACCCGG
Phenotype
MIM: 613491 MIM: 601119
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ACER1 PubMed Links

Gene Details

Gene
ACER1
Gene Name
alkaline ceramidase 1
There are no transcripts associated with this gene.

Gene
CLPP
Gene Name
caseinolytic mitochondrial matrix peptidase proteolytic subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006012.2 260 Missense Mutation CGG,CTG R46L NP_006003.1

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