Overview

Variant ID 25774
Entrez Gene ID 7903
Gene ST8SIA4 (GeneCards)
Location hg19 5:101466837-101466837
hg38 5:102131133-102131133
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000005.9:g.101466837 G>T (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 180915260

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.3725
CADD Raw score (version 1.3) -0.13635 (Deleterious)
FATHMM raw prediction score 0.0811 (Tolerated)
Deleterious probability by DeFine 0.2637 (Neutral)
Entrez Gene ID 7903 (NCBI Gene)
Official Gene Symbol ST8SIA4 (GeneCards)
Number of variants in ST8SIA4 in this database 16 (view all the variants)
Full name ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
Band 5q21.1
Other IDs Vega: OTTHUMG00000128727
OMIM: 602547
HGNC: HGNC:10871
Ensembl: ENSG00000113532
Other names PST, PST1, SIAT8D, ST8SIA-IV
Summary The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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