Product Details

SNP ID

rs3180545

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:23796185 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCCCTAAGGCTGCTGTCCACCC[A/C]AGCTCCTCTTGGGCCAGGCTGGGGT

Phenotype

MIM: 606953 MIM: 613898 MIM: 616143

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

GALE PubMed Links

Gene Details

Gene

GALE

Gene Name

UDP-galactose-4-epimerase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000403.3	1123	Silent Mutation	CTG,CTT	L318L	NP_000394.2
NM_001008216.1	1123	Silent Mutation	CTG,CTT	L318L	NP_001008217.1
NM_001127621.1	1123	Silent Mutation	CTG,CTT	L318L	NP_001121093.1

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	1123	Intron			NP_009191.1
XM_005245728.4	1123	Intron			XP_005245785.1
XM_017000165.1	1123	Intron			XP_016855654.1

Gene

PITHD1

Gene Name

PITH domain containing 1

There are no transcripts associated with this gene.

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