Product Details

SNP ID

rs143002792

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:89215025 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCCGCTCCAGACTGCAGTCGGCA[C/T]AAGCATGTCCTTCACATTGTATGTG

Phenotype

MIM: 604551 MIM: 613497

Polymorphism

C/T, 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	1307	Missense Mutation	ATG,GTG	M335V	NP_000226.2
NM_001127605.2	1307	Missense Mutation	ATG,GTG	M335V	NP_001121077.1
NM_001288979.1	1307	Missense Mutation	ATG,GTG	M219V	NP_001275908.1

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