AutismKB 2.0

Evidence Details for SLC6A12


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Basic Information Top
Gene Symbol:SLC6A12 ( BGT-1,BGT1,FLJ38727 )
Gene Full Name: solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12
Band: 12p13.33
Quick LinksEntrez ID:6539; OMIM: 603080; Uniprot ID:S6A12_HUMAN; ENSEMBL ID: ENSG00000111181; HGNC ID: 11045
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC6A12|6539|nucleotide
ATGGACGGGAAGGTGGCAGTGCAAGAGTGTGGGCCTCCTGCAGTCTCCTGGGTCCCCGAGGAGGGAGAGAAGTTGGACCAGGAAGACGAGGACCAGGTGAAGGAT
CGGGGCCAATGGACCAACAAGATGGAGTTTGTGCTGTCAGTGGCCGGGGAGATCATTGGGCTGGGCAATGTCTGGAGGTTTCCCTATCTCTGCTACAAAAACGGA
GGTGGAGCCTTCTTCATCCCCTACTTCATCTTCTTCTTTGTCTGCGGCATCCCGGTGTTCTTCCTGGAGGTGGCGTTGGGCCAATACACCAGCCAAGGGAGTGTC
ACAGCCTGGAGGAAGATCTGCCCCCTCTTCCAGGGCATTGGTCTGGCATCTGTGGTCATCGAGTCATATTTGAATGTCTACTACATCATCATCCTTGCCTGGGCT
CTCTTCTACCTGTTCAGCTCCTTCACTTCTGAGCTGCCCTGGACGACCTGCAACAACTTTTGGAACACAGAGCATTGCACGGACTTTCTGAACCACTCAGGAGCC
GGCACAGTGACCCCATTTGAGAATTTTACCTCACCTGTCATGGAATTCTGGGAGAGACGAGTTCTGGGCATCACCTCGGGCATCCATGACCTGGGCTCCCTGCGC
TGGGAGCTGGCCCTGTGCCTCCTGCTCGCCTGGGTCATCTGCTATTTCTGCATCTGGAAGGGGGTCAAGTCCACAGGCAAGGTGGTTTATTTCACAGCCACGTTT
CCGTACCTGATGCTTGTCATTTTGCTGATCAGAGGTGTCACCCTTCCCGGAGCCTACCAGGGCATCATCTACTACTTGAAGCCAGATTTGTTCCGCCTCAAGGAC
CCTCAGGTGTGGATGGATGCGGGCACCCAGATCTTCTTCTCCTTTGCCATCTGCCAGGGGTGCCTGACAGCCCTGGGCAGCTACAACAAGTATCACAACAACTGC
TACAAGGACTGCATCGCCCTCTGCTTCCTGAACAGTGCCACCAGCTTTGTGGCTGGGTTTGTTGTCTTCTCCATCCTGGGCTTCATGTCCCAAGAGCAAGGGGTG
CCCATTTCTGAAGTGGCCGAGTCAGGTCCTGGGCTGGCCTTCATCGCCTTCCCCAAGGCTGTGACTATGATGCCCTTATCCCAGCTGTGGTCCTGCCTGTTCTTT
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>SLC6A12|6539|protein
MDGKVAVQECGPPAVSWVPEEGEKLDQEDEDQVKDRGQWTNKMEFVLSVAGEIIGLGNVWRFPYLCYKNGGGAFFIPYFIFFFVCGIPVFFLEVALGQYTSQGSV
TAWRKICPLFQGIGLASVVIESYLNVYYIIILAWALFYLFSSFTSELPWTTCNNFWNTEHCTDFLNHSGAGTVTPFENFTSPVMEFWERRVLGITSGIHDLGSLR
WELALCLLLAWVICYFCIWKGVKSTGKVVYFTATFPYLMLVILLIRGVTLPGAYQGIIYYLKPDLFRLKDPQVWMDAGTQIFFSFAICQGCLTALGSYNKYHNNC
YKDCIALCFLNSATSFVAGFVVFSILGFMSQEQGVPISEVAESGPGLAFIAFPKAVTMMPLSQLWSCLFFIMLIFLGLDSQFVCVECLVTASIDMFPRQLRKSGR
RELLILTIAVMCYLIGLFLVTEGGMYIFQLFDYYASSGICLLFLSLFEVVCISWVYGADRFYDNIEDMIGYRPWPLVKISWLFLTPGLCLATFLFSLSKYTPLKY
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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) 1 (1) 0 (1) 0 (0) 0 (0) 12 (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
Silva IM, 2014 - aCGH;FISHASD - - - - 1 - 1
Linkage Studies Top