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SNP ID: rs387907182
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.13:52024872 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AAAATAAACATTCCATTTGATGAAT[T/C]AAAGAATTATTTGTCTGAAGCAACA
Phenotype: MIM: 613666 MIM: 608969
Polymorphism: T/C, Transition substitution
Allele Nomenclature
Literature Links: ALG11 PubMed Links

Gene Details

Gene: ALG11
Gene Name: ALG11, alpha-1,2-mannosyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001004127.2	182	Missense Mutation	TCA,TTA	S381L	NP_001004127.2

Gene: UTP14C
Gene Name: UTP14, small subunit processome component homolog C (S. cerevisiae)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021645.5	182	UTR 5			NP_067677.4

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