AutismKB 2.0

Evidence Details for SLC12A6


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Basic Information Top
Gene Symbol:SLC12A6 ( ACCPN,DKFZp434D2135,KCC3,KCC3A,KCC3B )
Gene Full Name: solute carrier family 12 (potassium/chloride transporters), member 6
Band: 15q14
Quick LinksEntrez ID:9990; OMIM: 604878; Uniprot ID:S12A6_HUMAN; ENSEMBL ID: ENSG00000140199; HGNC ID: 10914
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC12A6|9990|nucleotide
ATGAGTGAGATGTCTGGGGCCACCACTTCGCTGGCAACTGTTGCACTGGATCCACCCAGTGACCGGACTTCTCACCCCCAGGATGTCATCGAGGACCTGAGTCAG
AACTCCATCACAGGGGAACACAGCCAACTGTTAGACGACGGACATAAGAAAGCTCGAAATGCTTATCTCAATAATTCCAATTATGAAGAAGGAGATGAATATTTT
GATAAAAATTTGGCACTCTTTGAGGAAGAAATGGACACCAGACCGAAGGTGTCTTCCCTCCTCAACCGCATGGCCAATTACACTAATCTGACTCAAGGAGCAAAG
GAACATGAAGAGGCAGAAAACATCACTGAAGGGAAAAAGAAGCCCACCAAGACCCCCCAAATGGGTACCTTCATGGGTGTCTACCTCCCATGTCTACAAAATATT
TTTGGAGTGATCCTTTTTTTACGCCTTACATGGGTGGTGGGCACAGCTGGAGTTCTTCAGGCTTTTGCAATTGTCCTTATCTGCTGCTGCTGTACAATGTTGACT
GCTATCTCCATGAGTGCCATTGCCACTAATGGAGTGGTGCCAGCTGGGGGCTCATACTTTATGATTTCCCGGGCACTGGGCCCAGAGTTTGGTGGGGCTGTTGGC
CTCTGCTTTTATCTTGGTACCACATTTGCAGCAGCCATGTACATCCTTGGTGCCATTGAAATCTTTCTGGTCTATATCGTCCCCCGAGCTGCCATCTTTCACAGT
GATGACGCACTCAAGGAATCAGCAGCCATGCTAAATAACATGCGTGTCTACGGCACAGCTTTCTTGGTCCTTATGGTATTAGTGGTATTTATCGGCGTACGCTAT
GTGAACAAGTTTGCCTCACTTTTCCTGGCCTGTGTCATTGTGTCCATCTTGGCCATCTATGCTGGAGCCATCAAGTCTTCTTTTGCTCCTCCACACTTCCCGGTC
TGCATGCTGGGTAACCGCACCCTTTCATCAAGACACATTGACGTTTGCTCTAAGACCAAGGAAATTAACAACATGACAGTCCCATCAAAGTTATGGGGATTCTTC
TGTAACTCGAGTCAATTTTTCAATGCCACCTGTGATGAATACTTTGTTCACAATAACGTCACTTCAATCCAGGGCATTCCTGGATTGGCTAGTGGTATAATTACA
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>SLC12A6|9990|protein
MSEMSGATTSLATVALDPPSDRTSHPQDVIEDLSQNSITGEHSQLLDDGHKKARNAYLNNSNYEEGDEYFDKNLALFEEEMDTRPKVSSLLNRMANYTNLTQGAK
EHEEAENITEGKKKPTKTPQMGTFMGVYLPCLQNIFGVILFLRLTWVVGTAGVLQAFAIVLICCCCTMLTAISMSAIATNGVVPAGGSYFMISRALGPEFGGAVG
LCFYLGTTFAAAMYILGAIEIFLVYIVPRAAIFHSDDALKESAAMLNNMRVYGTAFLVLMVLVVFIGVRYVNKFASLFLACVIVSILAIYAGAIKSSFAPPHFPV
CMLGNRTLSSRHIDVCSKTKEINNMTVPSKLWGFFCNSSQFFNATCDEYFVHNNVTSIQGIPGLASGIITENLWSNYLPKGEIIEKPSAKSSDVLGSLNHEYVLV
DITTSFTLLVGIFFPSVTGIMAGSNRSGDLKDAQKSIPIGTILAILTTSFVYLSNVVLFGACIEGVVLRDKFGDAVKGNLVVGTLSWPSPWVIVIGSFFSTCGAG
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Evidence summary Top

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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) 0 (1) 1 (3) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (5)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top