Product Details

SNP ID

rs111033848

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:34646729 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATGTCGCGCAGTGGAACCGATCCT[C/T]AGCAACGCCAGCAGGCGTCAGAGGC

Phenotype

MIM: 606999 MIM: 600939 MIM: 601978

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GALT PubMed Links

Gene Details

Gene

GALT

Gene Name

galactose-1-phosphate uridylyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000155.3	141	Nonsense Mutation	CAG,TAG	Q9*	NP_000146.2
NM_001258332.1	141	UTR 5			NP_001245261.1

Gene

IL11RA

Gene Name

interleukin 11 receptor subunit alpha

There are no transcripts associated with this gene.

Gene

SIGMAR1

Gene Name

sigma non-opioid intracellular receptor 1

There are no transcripts associated with this gene.

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