Product Details

SNP ID
rs144772149
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:6364567 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCATGGGCTCCCTGCTTCTCGCCGC[C/T]GGCACCCCAGGCATGCGCCACTCGC
Phenotype
MIM: 613491 MIM: 613305 MIM: 601119
Polymorphism
C/T, Transition 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
ALKBH7
Gene Name
alkB homolog 7
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_006012.2 606 Silent Mutation GCC,GCT A161A NP_006003.1

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