AutismKB 2.0

Evidence Details for SLC12A3


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Basic Information Top
Gene Symbol:SLC12A3 ( FLJ96318,NCCT,TSC )
Gene Full Name: solute carrier family 12 (sodium/chloride transporters), member 3
Band: 16q13
Quick LinksEntrez ID:6559; OMIM: 600968; Uniprot ID:S12A3_HUMAN; ENSEMBL ID: ENSG00000070915; HGNC ID: 10912
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC12A3|6559|nucleotide
ATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCT
GCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATATGAGCACTAT
GCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTCCGGCCCACACTGGCTGACCTGCACTCCTTCCTCAAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTT
GACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAG
GGGGTGATGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGTCCTGACCTGGATCATCATC
CTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGCACCTACTTCCTCATCTCCCGGAGT
CTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTG
CTCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGGCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAG
TGGGAGTCCAAGGCCCAGGTGCTGTTCTTCCTTGTCATCATGGTCTCCTTTGCCAACTATTTAGTGGGGACGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAA
GGCTTCTTCAGCTACCGGGCGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTCTTCGGAATGTTCTCCATCTTCTTCCCCTCG
GCCACAGGCATCCTGGCAGGGGCCAACATATCTGGTGACCTCAAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCC
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>SLC12A3|6559|protein
MAELPTTETPGDATLCSGRFTISTLLSSDEPSPPAAYDSSHPSHLTHSSTFCMRTFGYNTIDVVPTYEHYANSTQPGEPRKVRPTLADLHSFLKQEGRHLHALAF
DSRPSHEMTDGLVEGEAGTSSEKNPEEPVRFGWVKGVMIRCMLNIWGVILYLRLPWITAQAGIVLTWIIILLSVTVTSITGLSISAISTNGKVKSGGTYFLISRS
LGPELGGSIGLIFAFANAVGVAMHTVGFAETVRDLLQEYGAPIVDPINDIRIIGVVSVTVLLAISLAGMEWESKAQVLFFLVIMVSFANYLVGTLIPPSEDKASK
GFFSYRADIFVQNLVPDWRGPDGTFFGMFSIFFPSATGILAGANISGDLKDPAIAIPKGTLMAIFWTTISYLAISATIGSCVVRDASGVLNDTVTPGWGACEGLA
CSYGWNFTECTQQHSCHYGLINYYQTMSMVSGFAPLITAGIFGATLSSALACLVSAAKVFQCLCEDQLYPLIGFFGKGYGKNKEPVRGYLLAYAIAVAFIIIAEL
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top