Evidence Details for SLC24A1
Basic Information Top
| Gene Symbol: | SLC24A1 ( HsT17412,KIAA0702,NCKX,NCKX1,RODX ) |
|---|---|
| Gene Full Name: | solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 |
| Band: | 15q22.31 |
| Quick Links | Entrez ID:9187; OMIM: 603617; Uniprot ID:NCKX1_HUMAN; ENSEMBL ID: ENSG00000074621; HGNC ID: 10975 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SLC24A1|9187|nucleotide
ATGGGGAAATTGATCAGGATGGGGCCGCAAGAGAGGTGGTTACTCCGGACAAAGCGGCTTCATTGGAGTCGCCTCCTCTTCTTACTGGGAATGTTGATCATCGGT
TCTACTTATCAGCACCTTAGGAGACCCCGGGGCCTTTCCTCATTGTGGGCAGCAGTCTCTTCTCATCAGCCTATAAAACTGGCCAGTCGGGACCTCTCCAGTGAA
GAGATGATGATGATGAGCAGCAGCCCTTCAAAACCTAGCTCCGAAATGGGGGGTAAGATGCTGGTACCCCAAGCCTCAGTGGGCAGTGATGAAGCAACACTGAGC
ATGACAGTGGAGAATATCCCCAGTATGCCTAAAAGAACAGCCAAGATGATCCCAACAACAACCAAGAATAATTACAGCCCAACAGCAGCAGGTACAGAAAGAAGG
AAGGAAGACACCCCAACATCCAGTAGAACACTGACTTACTACACCTCAACTTCAAGCAGACAAATAGTAAAAAAGTATACCCCAACACCCAGGGGAGAAATGAAG
AGCTACAGCCCAACTCAAGTGAGGGAAAAGGTGAAGTATACTCCTTCCCCACGTGGTAGAAGAGTAGGCACTTACGTGCCGTCCACATTCATGACAATGGAAACA
AGCCATGCGATCACCCCCAGGACAACAGTGAAAGACAGTGACATTACAGCAACCTATAAAATACTCGAAACCAACTCTCTTAAGAGAATAATGGAGGAAACCACC
CCAACCACTCTCAAGGGAATGTTTGATAGCACCCCAACTTTTCTGACACATGAGGTAGAAGCAAACGTCTTGACTTCTCCAAGGAGCGTCATGGAAAAAAACAAC
CTGTTTCCCCCCAGAAGAGTGGAAAGTAACAGCTCAGCCCATCCCTGGGGGTTAGTGGGAAAGAGCAACCCGAAGACTCCCCAGGGAACAGTCCTGTTGCATACC
CCAGCCACCTCTGAGGGGCAGGTGACAATAAGCACCATGACAGGCAGCAGCCCAGCAGAAACCAAAGCCTTCACTGCTGCCTGGAGTCTTAGGAATCCTTCACCC
AGGACCAGTGTATCAGCCATCAAAACAGCCCCAGCCATAGTCTGGAGGCTGGCAAAGAAACCTTCCACAGCACCCAGCACCTCAACAACCCCTACGGTCAGGGCA
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ATGGGGAAATTGATCAGGATGGGGCCGCAAGAGAGGTGGTTACTCCGGACAAAGCGGCTTCATTGGAGTCGCCTCCTCTTCTTACTGGGAATGTTGATCATCGGT
TCTACTTATCAGCACCTTAGGAGACCCCGGGGCCTTTCCTCATTGTGGGCAGCAGTCTCTTCTCATCAGCCTATAAAACTGGCCAGTCGGGACCTCTCCAGTGAA
GAGATGATGATGATGAGCAGCAGCCCTTCAAAACCTAGCTCCGAAATGGGGGGTAAGATGCTGGTACCCCAAGCCTCAGTGGGCAGTGATGAAGCAACACTGAGC
ATGACAGTGGAGAATATCCCCAGTATGCCTAAAAGAACAGCCAAGATGATCCCAACAACAACCAAGAATAATTACAGCCCAACAGCAGCAGGTACAGAAAGAAGG
AAGGAAGACACCCCAACATCCAGTAGAACACTGACTTACTACACCTCAACTTCAAGCAGACAAATAGTAAAAAAGTATACCCCAACACCCAGGGGAGAAATGAAG
AGCTACAGCCCAACTCAAGTGAGGGAAAAGGTGAAGTATACTCCTTCCCCACGTGGTAGAAGAGTAGGCACTTACGTGCCGTCCACATTCATGACAATGGAAACA
AGCCATGCGATCACCCCCAGGACAACAGTGAAAGACAGTGACATTACAGCAACCTATAAAATACTCGAAACCAACTCTCTTAAGAGAATAATGGAGGAAACCACC
CCAACCACTCTCAAGGGAATGTTTGATAGCACCCCAACTTTTCTGACACATGAGGTAGAAGCAAACGTCTTGACTTCTCCAAGGAGCGTCATGGAAAAAAACAAC
CTGTTTCCCCCCAGAAGAGTGGAAAGTAACAGCTCAGCCCATCCCTGGGGGTTAGTGGGAAAGAGCAACCCGAAGACTCCCCAGGGAACAGTCCTGTTGCATACC
CCAGCCACCTCTGAGGGGCAGGTGACAATAAGCACCATGACAGGCAGCAGCCCAGCAGAAACCAAAGCCTTCACTGCTGCCTGGAGTCTTAGGAATCCTTCACCC
AGGACCAGTGTATCAGCCATCAAAACAGCCCCAGCCATAGTCTGGAGGCTGGCAAAGAAACCTTCCACAGCACCCAGCACCTCAACAACCCCTACGGTCAGGGCA
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>SLC24A1|9187|protein
MGKLIRMGPQERWLLRTKRLHWSRLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPIKLASRDLSSEEMMMMSSSPSKPSSEMGGKMLVPQASVGSDEATLS
MTVENIPSMPKRTAKMIPTTTKNNYSPTAAGTERRKEDTPTSSRTLTYYTSTSSRQIVKKYTPTPRGEMKSYSPTQVREKVKYTPSPRGRRVGTYVPSTFMTMET
SHAITPRTTVKDSDITATYKILETNSLKRIMEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNNLFPPRRVESNSSAHPWGLVGKSNPKTPQGTVLLHT
PATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSPRTSVSAIKTAPAIVWRLAKKPSTAPSTSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEEL
SPSPSVLPPSLPDLHPKGEYPPDLFSVEERRQGWVVLHVFGMMYVFVALAIVCDEYFVPALGVITDKLQISEDVAGATFMAAGGSAPELFTSLIGVFISHSNVGI
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MGKLIRMGPQERWLLRTKRLHWSRLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPIKLASRDLSSEEMMMMSSSPSKPSSEMGGKMLVPQASVGSDEATLS
MTVENIPSMPKRTAKMIPTTTKNNYSPTAAGTERRKEDTPTSSRTLTYYTSTSSRQIVKKYTPTPRGEMKSYSPTQVREKVKYTPSPRGRRVGTYVPSTFMTMET
SHAITPRTTVKDSDITATYKILETNSLKRIMEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNNLFPPRRVESNSSAHPWGLVGKSNPKTPQGTVLLHT
PATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSPRTSVSAIKTAPAIVWRLAKKPSTAPSTSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEEL
SPSPSVLPPSLPDLHPKGEYPPDLFSVEERRQGWVVLHVFGMMYVFVALAIVCDEYFVPALGVITDKLQISEDVAGATFMAAGGSAPELFTSLIGVFISHSNVGI
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Evidence summary TopClick 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 (3) | 0 (0) | 0 (0) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 12 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Smith, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band |  | | autism | - | - | - | - | 278 | - | 278 |
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top