Product Details

SNP ID

rs145847822

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:23793720 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTCCCCAGGCCTAGGATCCCTGT[A/G]ACCCTCAACATGAAGATGGTGATGC

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

There are no transcripts associated with this gene.

Gene

LYPLA2

Gene Name

lysophospholipase II

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007260.2	680	Intron			NP_009191.1
XM_005245728.4	680	Silent Mutation	GTA,GTG	V76V	XP_005245785.1
XM_017000165.1	680	Silent Mutation	GTA,GTG	V64V	XP_016855654.1

Gene

PITHD1

Gene Name

PITH domain containing 1

There are no transcripts associated with this gene.

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