Product Details

SNP ID
rs113023458
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.20:45899835 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCCCACCCACCCTTCCCCACTCA[C/G]AGCCAGCGACTCCAGTGCAGAATGG
Phenotype
MIM: 613111 MIM: 608597 MIM: 172425
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
CTSA PubMed Links

Gene Details

Gene
CTSA
Gene Name
cathepsin A
There are no transcripts associated with this gene.

Gene
NEURL2
Gene Name
neuralized E3 ubiquitin protein ligase 2
There are no transcripts associated with this gene.

Gene
PLTP
Gene Name
phospholipid transfer protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001242920.1 Intron NP_001229849.1
NM_001242921.1 Intron NP_001229850.1
NM_006227.3 Intron NP_006218.1
NM_182676.2 Intron NP_872617.1

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