SLC35C1
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SLC35C1 (HGNC:20197) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
solute carrier family 35 member C1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FUCT1, FLJ11320
%HI
48.28(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.58(Read more about gnomAD pLI score)
LOEUF
0.66(Read more about gnomAD LOEUF score)
Cytoband
11p11.2
Genomic Coordinates
GRCh37/hg19: chr11:45825623-45834567 NCBI Ensembl UCSC
GRCh38/hg38: chr11:45804072-45813016 NCBI Ensembl UCSC
MANE Select Transcript
NM_018389.5 ENST00000314134.4 (Read more about MANE Select)
Function
Antiporter specific for GDP-l-fucose and depending on the concomitant reverse transport of GMP. Involved in GDP-fucose import from the cytoplasm into the Golgi lumen. {ECO:0000269|PubMed:11326279, ECO:0000269|PubMed:11326280, ECO:0000269|PubMed:27738779}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-3081
ClinGen Curation ID:
CCID:007878
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • leukocyte adhesion deficiency type II Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)