Evidence Details for SLC12A1
Basic Information Top
Gene Symbol: | SLC12A1 ( BSC1,MGC48843,NKCC2 ) |
---|---|
Gene Full Name: | solute carrier family 12 (sodium/potassium/chloride transporters), member 1 |
Band: | 15q21.1 |
Quick Links | Entrez ID:6557; OMIM: 600839; Uniprot ID:S12A1_HUMAN; ENSEMBL ID: ENSG00000074803; HGNC ID: 10910 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>SLC12A1|6557|nucleotide
ATGTCACTGAACAACTCTTCCAATGTATTTCTGGATTCAGTGCCCAGTAATACCAATCGCTTTCAAGTTAGTGTCATAAATGAGAACCATGAGAGCAGTGCAGCT
GCAGATGACAATACTGACCCACCACATTATGAAGAAACCTCTTTTGGGGATGAAGCTCAGAAAAGACTCAGAATCAGCTTTAGGCCTGGGAATCAGGAGTGCTAT
GACAATTTCCTCCAAAGTGGAGAAACTGCTAAAACAGATGCCAGTTTTCACGCTTATGATTCTCACACAAACACATACTATCTACAAACTTTTGGCCACAACACC
ATGGATGCCGTTCCCAAGATAGAGTACTATCGTAACACCGGCAGCATCAGTGGGCCCAAGGTCAACCGACCCAGCCTGCTTGAGATTCACGAGCAACTCGCAAAG
AATGTGGCAGTCACCCCAAGTTCAGCTGACAGAGTTGCTAACGGTGATGGGATACCTGGAGATGAACAAGCTGAAAATAAGGAAGATGATCAAGCTGGTGTTGTG
AAGTTTGGATGGGTGAAAGGTGTGCTGGTAAGATGCATGCTGAACATCTGGGGAGTCATGCTCTTCATTCGCCTCTCCTGGATTGTTGGAGAAGCTGGAATTGGT
CTTGGAGTTCTCATAATTCTTCTTTCCACCATGGTAACTTCTATTACTGGGTTGTCAACTTCTGCGATAGCAACTAACGGGTTTGTTCGTGGAGGTGGGGCCTAC
TATCTTATTTCCAGAAGTTTAGGGCCCGAGTTCGGTGGGTCAATAGGCCTGATCTTTGCTTTTGCTAATGCAGTGGCTGTTGCTATGTATGTGGTGGGATTTGCT
GAGACTGTAGTAGATCTTCTTAAGGAGAGTGATTCGATGATGGTGGATCCAACCAATGACATCCGGATTATAGGCTCCATCACAGTGGTGATTCTTCTAGGAATT
TCAGTAGCTGGAATGGAATGGGAGGCAAAGGCCCAAGTCATTCTTCTGGTCATTCTTCTAATTGCTATTGCAAACTTCTTCATTGGAACTGTCATTCCATCCAAC
AATGAGAAAAAGTCCAGAGGTTTCTTTAATTACCAAGCATCAATATTTGCAGAAAACTTTGGGCCACGCTTCACAAAGGGTGAAGGCTTCTTCTCTGTCTTTGCC
Show »
ATGTCACTGAACAACTCTTCCAATGTATTTCTGGATTCAGTGCCCAGTAATACCAATCGCTTTCAAGTTAGTGTCATAAATGAGAACCATGAGAGCAGTGCAGCT
GCAGATGACAATACTGACCCACCACATTATGAAGAAACCTCTTTTGGGGATGAAGCTCAGAAAAGACTCAGAATCAGCTTTAGGCCTGGGAATCAGGAGTGCTAT
GACAATTTCCTCCAAAGTGGAGAAACTGCTAAAACAGATGCCAGTTTTCACGCTTATGATTCTCACACAAACACATACTATCTACAAACTTTTGGCCACAACACC
ATGGATGCCGTTCCCAAGATAGAGTACTATCGTAACACCGGCAGCATCAGTGGGCCCAAGGTCAACCGACCCAGCCTGCTTGAGATTCACGAGCAACTCGCAAAG
AATGTGGCAGTCACCCCAAGTTCAGCTGACAGAGTTGCTAACGGTGATGGGATACCTGGAGATGAACAAGCTGAAAATAAGGAAGATGATCAAGCTGGTGTTGTG
AAGTTTGGATGGGTGAAAGGTGTGCTGGTAAGATGCATGCTGAACATCTGGGGAGTCATGCTCTTCATTCGCCTCTCCTGGATTGTTGGAGAAGCTGGAATTGGT
CTTGGAGTTCTCATAATTCTTCTTTCCACCATGGTAACTTCTATTACTGGGTTGTCAACTTCTGCGATAGCAACTAACGGGTTTGTTCGTGGAGGTGGGGCCTAC
TATCTTATTTCCAGAAGTTTAGGGCCCGAGTTCGGTGGGTCAATAGGCCTGATCTTTGCTTTTGCTAATGCAGTGGCTGTTGCTATGTATGTGGTGGGATTTGCT
GAGACTGTAGTAGATCTTCTTAAGGAGAGTGATTCGATGATGGTGGATCCAACCAATGACATCCGGATTATAGGCTCCATCACAGTGGTGATTCTTCTAGGAATT
TCAGTAGCTGGAATGGAATGGGAGGCAAAGGCCCAAGTCATTCTTCTGGTCATTCTTCTAATTGCTATTGCAAACTTCTTCATTGGAACTGTCATTCCATCCAAC
AATGAGAAAAAGTCCAGAGGTTTCTTTAATTACCAAGCATCAATATTTGCAGAAAACTTTGGGCCACGCTTCACAAAGGGTGAAGGCTTCTTCTCTGTCTTTGCC
Show »
>SLC12A1|6557|protein
MSLNNSSNVFLDSVPSNTNRFQVSVINENHESSAAADDNTDPPHYEETSFGDEAQKRLRISFRPGNQECYDNFLQSGETAKTDASFHAYDSHTNTYYLQTFGHNT
MDAVPKIEYYRNTGSISGPKVNRPSLLEIHEQLAKNVAVTPSSADRVANGDGIPGDEQAENKEDDQAGVVKFGWVKGVLVRCMLNIWGVMLFIRLSWIVGEAGIG
LGVLIILLSTMVTSITGLSTSAIATNGFVRGGGAYYLISRSLGPEFGGSIGLIFAFANAVAVAMYVVGFAETVVDLLKESDSMMVDPTNDIRIIGSITVVILLGI
SVAGMEWEAKAQVILLVILLIAIANFFIGTVIPSNNEKKSRGFFNYQASIFAENFGPRFTKGEGFFSVFAIFFPAATGILAGANISGDLEDPQDAIPRGTMLAIF
ITTVAYLGVAICVGACVVRDATGNMNDTIISGMNCNGSAACGLGYDFSRCRHEPCQYGLMNNFQVMSMVSGFGPLITAGIFSATLSSALASLVSAPKVFQALCKD
Show »
MSLNNSSNVFLDSVPSNTNRFQVSVINENHESSAAADDNTDPPHYEETSFGDEAQKRLRISFRPGNQECYDNFLQSGETAKTDASFHAYDSHTNTYYLQTFGHNT
MDAVPKIEYYRNTGSISGPKVNRPSLLEIHEQLAKNVAVTPSSADRVANGDGIPGDEQAENKEDDQAGVVKFGWVKGVLVRCMLNIWGVMLFIRLSWIVGEAGIG
LGVLIILLSTMVTSITGLSTSAIATNGFVRGGGAYYLISRSLGPEFGGSIGLIFAFANAVAVAMYVVGFAETVVDLLKESDSMMVDPTNDIRIIGSITVVILLGI
SVAGMEWEAKAQVILLVILLIAIANFFIGTVIPSNNEKKSRGFFNYQASIFAENFGPRFTKGEGFFSVFAIFFPAATGILAGANISGDLEDPQDAIPRGTMLAIF
ITTVAYLGVAICVGACVVRDATGNMNDTIISGMNCNGSAACGLGYDFSRCRHEPCQYGLMNNFQVMSMVSGFGPLITAGIFSATLSSALASLVSAPKVFQALCKD
Show »
Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
---|---|---|---|---|---|---|---|---|---|---|---|
Score (No. of Studies) | No | 0 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Zwaag, 2009 | - | SNP microarray | autism | - | - | - | - | 105 | 267 | 372 |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Allen-Brady, 2010 | USA | SNP-based genomic screen | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.