WebLearn how to access information stored in the GenBank database through the Geneious interface, including downloading nucleotide sequences, taxonomic information and publications, and running simple BLAST searches. Written by Dr Mike Bunce (Murdoch University, Australia) and the Geneious team. Introduction WebMar 29, 2024 · SLC6A1. solute carrier family 6 member 1. Gene ID: 6529, updated on 9-Mar-2024. Gene type: protein coding. Also known as: MAE; GAT1; GABATR; hGAT-1; GABATHG. See all available tests in GTR for this gene. Go to complete Gene record for SLC6A1. Go to …
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WebThe mutations were found by direct sequencing of the SLC6A1 gene in 2 cohorts: the first 4 mutations were found in 4 of 569 individuals with epileptic encephalopathies, and the remaining 2 mutations were found in 2 of 75 individuals with MAE. ... Gene/Locus MIM number 3p25.3 Myoclonic-atonic epilepsy 616421 Autosomal dominant 3 SLC6A1 ... WebSLC6A1 provided by HGNC Official Full Name solute carrier family 6 member 1 provided by HGNC Primary source HGNC:HGNC:11042 AllianceGenome:HGNC:11042 RefSeq status … lib tech swordfish
Entry - #616421 - MYOCLONIC-ATONIC EPILEPSY; MAE - OMIM
WebThe formats of sequence accession numbers are of distinct types, depending on the NCBI database. The alphabetical prefixes contain various embedded information. Select a database link below for details on its accession numbers: Nucleotide: GenBank (INSDC) Nucleotide: Reference Sequences (RefSeq) Protein Assembly WebMar 1, 2024 · SLC6A1 epileptic encephalopathy is an autosomal dominant genetic disorder characterized by the loss-of-function of one copy of the human SLC6A1 gene. Clinical manifestation of SLC6A1 epileptic encephalopathy is characterized by early onset seizures (mean onset 3.7 years) and mild to severe intellectual disability. WebMar 21, 2024 · SLC6A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different) ... Protein Accession: P30531 Secondary … lib tech surf fins