Product Details

SNP ID

rs190300252

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:89207285 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACCTGGGGGTCGGAGCAGTTGTGG[A/C]AGCTCATTGCGAGGCTGTGCAAGGC

Phenotype

MIM: 604551 MIM: 613497

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CH25H PubMed Links

Gene Details

Gene

CH25H

Gene Name

cholesterol 25-hydroxylase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003956.3	30	Missense Mutation	TGC,TTC	C3F	NP_003947.1

Gene

LIPA

Gene Name

lipase A, lysosomal acid type

There are no transcripts associated with this gene.

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