| Variant ID | 1663 |
|---|---|
| Entrez Gene ID | 81849 |
| Gene | ST6GALNAC5 (GeneCards) |
| Location | hg19 1:77390775-77390775
hg38 1:76925090-76925090 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.77390775 G>A (Genome Assembly: GRCh37) |
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2452 |
| CADD Raw score (version 1.3) | 0.031779 (Deleterious) |
| FATHMM raw prediction score | 0.10064 (Tolerated) |
| Deleterious probability by DeFine | 0.1789 (Neutral) |
| Entrez Gene ID | 81849 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ST6GALNAC5 (GeneCards) |
| Number of variants in ST6GALNAC5 in this database | 3 (view all the variants) |
| Full name | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 |
| Band | 1p31.1 |
| Other IDs | Vega: OTTHUMG00000009687 OMIM: 610134 HGNC: HGNC:19342 Ensembl: ENSG00000117069 |
| Other names | SIAT7E, SIAT7-E, ST6GalNAcV |
| Summary | The protein encoded by this gene is a Golgi type II transmembrane glycosyltransferase. The encoded protein catalyzes the transfer of sialic acid to cell surface proteins to modulate cell-cell interactions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |