| Variant ID | 22514 |
|---|---|
| Entrez Gene ID | 388662 |
| Gene | SLC6A17 (GeneCards) |
| Location | hg19 1:110728974-110728974
hg38 1:110186352-110186352 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000001.10:g.110728974 G>T (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 | 0.0633 |
| CADD Raw score (version 1.3) | -0.199706 (Deleterious) |
| FATHMM raw prediction score | 0.16669 (Tolerated) |
| Deleterious probability by DeFine | 0.3099 (Neutral) |
| Entrez Gene ID | 388662 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC6A17 (GeneCards) |
| Number of variants in SLC6A17 in this database | 2 (view all the variants) |
| Full name | solute carrier family 6 member 17 |
| Band | 1p13.3 |
| Other IDs | Vega: OTTHUMG00000011761 OMIM: 610299 HGNC: HGNC:31399 Ensembl: ENSG00000197106 |
| Other names | NTT4, MRT48 |
| Summary | The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. In mouse, the strongest expression of this gene was in cortical and hippocampal tissues where expression increased during embryonic brain development and peaked postnatally. Defects in this gene cause a form of autosomal recessive intellectual disability. [provided by RefSeq, Jul 2017] |
| Individual ID | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |