Product Details

SNP ID

rs145824319

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:23804501 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACAGCCTCCAAGTCCTGCCACAG[A/G]AGAGTCCACGACACTCACTCCCATC

Phenotype

MIM: 606953 MIM: 613898 MIM: 616143

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GALE PubMed Links

Gene Details

Gene

GALE

Gene Name

UDP-galactose-4-epimerase

There are no transcripts associated with this gene.

Gene

HMGCL

Gene Name

3-hydroxymethyl-3-methylglutaryl-CoA lyase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000191.2	606	Missense Mutation	CCT,TCT	P259S	NP_000182.2
NM_001166059.1	606	Missense Mutation	CCT,TCT	P188S	NP_001159531.1

Gene

LYPLA2

Gene Name

lysophospholipase II

There are no transcripts associated with this gene.

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