Overview

Variant ID 26081
Entrez Gene ID 222553
Gene SLC35F1 (GeneCards)
Location hg19 6:118778745-118778745
hg38 6:118457582-118457582
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000006.11:g.118778745 C>A (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 171115067

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.3153
CADD Raw score (version 1.3) 0.057118 (Deleterious)
FATHMM raw prediction score 0.0774 (Tolerated)
Deleterious probability by DeFine 0.0719 (Neutral)
Entrez Gene ID 222553 (NCBI Gene)
Official Gene Symbol SLC35F1 (GeneCards)
Number of variants in SLC35F1 in this database 11 (view all the variants)
Full name solute carrier family 35 member F1
Band 6q22.2-q22.31
Other IDs Vega: OTTHUMG00000015460
HGNC: HGNC:21483
Ensembl: ENSG00000196376
Other names C6orf169, dJ230I3.1
Summary None

Individual #1

Individual ID 29217587.02 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID