Product Details

SNP ID

rs149526487

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:23808290 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAATGGTGTCCCCCAGGGAGATCT[C/T]GTAGCAGCCCATTGAGTAGAACTTC

Phenotype

MIM: 606953 MIM: 613898

Polymorphism

C/T, 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	426	Missense Mutation			NP_000182.2
NM_001166059.1	426	Missense Mutation			NP_001159531.1

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