AutismKB 2.0

Evidence Details for SLC1A2


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Basic Information Top
Gene Symbol:SLC1A2 ( EAAT2,GLT-1 )
Gene Full Name: solute carrier family 1 (glial high affinity glutamate transporter), member 2
Band: 11p13
Quick LinksEntrez ID:6506; OMIM: 600300; Uniprot ID:EAA2_HUMAN; ENSEMBL ID: ENSG00000110436; HGNC ID: 10940
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC1A2|6506|nucleotide
ATGCCCAAGCAGGTGGAAGTGCGAATGCACGACAGTCATCTTGGCTCAGAGGAACCCAAGCACCGGCACCTGGGCCTGCGCCTGTGTGACAAGCTGGGGAAGAAT
CTGCTGCTCACCCTGACGGTGTTTGGTGTCATCCTGGGAGCAGTGTGTGGAGGGCTTCTTCGCTTGGCATCTCCCATCCACCCTGATGTGGTTATGTTAATAGCC
TTCCCAGGGGATATACTCATGAGGATGCTAAAAATGCTCATTCTCCCTCTAATCATCTCCAGCTTAATCACAGGGTTGTCAGGCCTGGATGCTAAGGCTAGTGGC
CGCTTGGGCACGAGAGCCATGGTGTATTACATGTCCACGACCATCATTGCTGCAGTACTGGGGGTCATTCTGGTCTTGGCTATCCATCCAGGCAATCCCAAGCTC
AAGAAGCAGCTGGGGCCTGGGAAGAAGAATGATGAAGTGTCCAGCCTGGATGCCTTCCTGGACCTTATTCGAAATCTCTTCCCTGAAAACCTTGTCCAAGCCTGC
TTTCAACAGATTCAAACAGTGACGAAGAAAGTCCTGGTTGCACCACCGCCGGACGAGGAGGCCAACGCAACCAGCGCTGTTGTCTCTCTGTTGAACGAGACTGTG
ACTGAGGTGCCGGAGGAGACTAAGATGGTTATCAAGAAGGGCCTGGAGTTCAAGGATGGGATGAACGTCTTAGGTCTGATAGGGTTTTTCATTGCTTTTGGCATC
GCTATGGGGAAGATGGGAGATCAGGCCAAGCTGATGGTGGATTTCTTCAACATTTTGAATGAGATTGTAATGAAGTTAGTGATCATGATCATGTGGTACTCTCCC
CTGGGTATCGCCTGCCTGATCTGTGGAAAGATCATTGCAATCAAGGACTTAGAAGTGGTTGCTAGGCAACTGGGGATGTACATGGTAACAGTGATCATAGGCCTC
ATCATCCACGGGGGCATCTTTCTCCCCTTGATTTACTTTGTAGTGACCAGGAAAAACCCCTTCTCCTTTTTTGCTGGCATTTTCCAAGCTTGGATCACTGCCCTG
GGCACCGCTTCCAGTGCTGGAACTTTGCCTGTCACCTTTCGTTGCCTGGAAGAAAATCTGGGGATTGATAAGCGTGTGACTAGATTCGTCCTTCCTGTTGGAGCA
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>SLC1A2|6506|protein
MPKQVEVRMHDSHLGSEEPKHRHLGLRLCDKLGKNLLLTLTVFGVILGAVCGGLLRLASPIHPDVVMLIAFPGDILMRMLKMLILPLIISSLITGLSGLDAKASG
RLGTRAMVYYMSTTIIAAVLGVILVLAIHPGNPKLKKQLGPGKKNDEVSSLDAFLDLIRNLFPENLVQACFQQIQTVTKKVLVAPPPDEEANATSAVVSLLNETV
TEVPEETKMVIKKGLEFKDGMNVLGLIGFFIAFGIAMGKMGDQAKLMVDFFNILNEIVMKLVIMIMWYSPLGIACLICGKIIAIKDLEVVARQLGMYMVTVIIGL
IIHGGIFLPLIYFVVTRKNPFSFFAGIFQAWITALGTASSAGTLPVTFRCLEENLGIDKRVTRFVLPVGATINMDGTALYEAVAAIFIAQMNGVVLDGGQIVTVS
LTATLASVGAASIPSAGLVTMLLILTAVGLPTEDISLLVAVDWLLDRMRTSVNVVGDSFGAGIVYHLSKSELDTIDSQHRVHEDIEMTKTQSIYDDMKNHRESNS
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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 (0) 1 (1) 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
Linkage Studies Top