rs1321

This variant is located in the ALG12 gene.

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ClinVar annotation

Benign★★★☆
3 submitters1 publication

ALG12-congenital disorder of glycosylation; not provided

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Research that mentions this SNP (1)

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Identification of common genetic variants that account for transcript isoform variation between human populations
AssociationN=176Zhang W. et al.(2009)· Human Genetics

This study identified 782 differentially spliced probesets between European (CEU) and African (YRI) HapMap populations using exon arrays on 176 lymphoblastoid cell lines. Genome-wide association analysis found that 2,393 local and 419 distant SNPs were significantly associated with alternative splicing patterns (P < 3.18 × 10⁻⁸ after Bonferroni correction), suggesting common genetic variants substantially account for population differences in transcript isoform variation.

Traits studied:Alternative splicing patternsGene expressionTranscript isoform variation
PubMedDOIMetascience Observatory

About ALG12

This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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