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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)