Product Details

SNP ID

rs140944848

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:63370981 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTCCCTAAATTTGAAGAACTATG[A/G]AGAAATGGTACTTGATGACAGTAGT

Phenotype

MIM: 604566

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ALG6 PubMed Links

Gene Details

Gene

ALG6

Gene Name

ALG6, alpha-1,3-glucosyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013339.3	309	Missense Mutation	AAG,GAG	K2E	NP_037471.2

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