Product Details

SNP ID

rs200420117

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:89214900 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGGGCATCCAGGCCCCAAATGAA[A/G]TCAAGATGCTCCCATTCCGGAATGC

Phenotype

MIM: 604551 MIM: 613497

Polymorphism

A/G, Transition 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	1432	Silent Mutation	GAC,GAT	D376D	NP_000226.2
NM_001127605.2	1432	Silent Mutation	GAC,GAT	D376D	NP_001121077.1
NM_001288979.1	1432	Silent Mutation	GAC,GAT	D260D	NP_001275908.1

View Full Product Details