Product Details

SNP ID
rs138980958
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:89214862 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCCTCATTAGATTAATAATTTTA[G/T]TATAAAGCCTCCAAGGGGCATCCAG
Phenotype
MIM: 604551 MIM: 613497
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CH25H PubMed Links

Gene Details

Gene
CH25H
Gene Name
cholesterol 25-hydroxylase
There are no transcripts associated with this gene.

Gene
LIPA
Gene Name
lipase A, lysosomal acid type
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000235.3 1470 Missense Mutation AAT,ACT N389T NP_000226.2
NM_001127605.2 1470 Missense Mutation AAT,ACT N389T NP_001121077.1
NM_001288979.1 1470 Missense Mutation AAT,ACT N273T NP_001275908.1

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