Product Details

SNP ID
rs147664819
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:45899008 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACATCAGCAGGCCGGTTCTTCTCA[A/G]TCACCTCTCGCAGCCCTTTGGCAAA
Phenotype
MIM: 613111 MIM: 608597 MIM: 172425
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CTSA PubMed Links

Gene Details

Gene
CTSA
Gene Name
cathepsin A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000308.3 1427 Intron NP_000299.2
NM_001127695.2 1427 Intron NP_001121167.1
NM_001167594.2 1427 Intron NP_001161066.1
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 1427 Missense Mutation ACT,ATT T377I NP_001229849.1
NM_001242921.1 1427 Missense Mutation ACT,ATT T384I NP_001229850.1
NM_006227.3 1427 Missense Mutation ACT,ATT T472I NP_006218.1
NM_182676.2 1427 Missense Mutation ACT,ATT T420I NP_872617.1

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