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SNP ID

rs145714167

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:52019063 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAATGGGAAAAATCAAATGGTGAT[G/T]GCATTTTTTCATCCATACTGCAATG

Phenotype

MIM: 613666 MIM: 606882 MIM: 608969

Polymorphism

G/T, Transversion 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	227	Missense Mutation	ATG,ATT	M65I	NP_001004127.2

Gene

ATP7B

Gene Name

ATPase copper transporting beta

There are no transcripts associated with this gene.

Gene

UTP14C

Gene Name

UTP14, small subunit processome component homolog C (S. cerevisiae)

There are no transcripts associated with this gene.

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