AutismKB 2.0

Evidence Details for GRIN2C


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Basic Information Top
Gene Symbol:GRIN2C ( NMDAR2C,NR2C )
Gene Full Name: glutamate receptor, ionotropic, N-methyl D-aspartate 2C
Band: 17q25.1
Quick LinksEntrez ID:2905; OMIM: 138254; Uniprot ID:NMDE3_HUMAN; ENSEMBL ID: ENSG00000161509; HGNC ID: 4587
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GRIN2C|2905|nucleotide
ATGGGTGGGGCCCTGGGGCCGGCCCTGTTGCTCACCTCGCTCTTCGGTGCCTGGGCAGGGCTGGGTCCGGGGCAGGGCGAGCAGGGCATGACGGTGGCCGTGGTG
TTTAGCAGCTCAGGGCCGCCCCAGGCCCAGTTCCGTGCCCGCCTCACCCCCCAGAGCTTCCTGGACCTACCCCTGGAGATCCAGCCGCTCACAGTTGGGGTCAAC
ACCACCAACCCCAGCAGCCTCCTCACCCAGATCTGCGGCCTCCTGGGTGCTGCCCACGTCCACGGCATTGTCTTTGAGGACAACGTGGACACCGAGGCGGTGGCC
CAGATCCTTGACTTCATCTCCTCCCAGACCCATGTGCCCATCCTCAGCATCAGCGGAGGCTCTGCTGTGGTCCTCACCCCCAAGGAGCCGGGCTCCGCCTTCCTG
CAGCTGGGCGTGTCCCTGGAGCAGCAGCTGCAGGTGCTGTTCAAGGTGCTGGAAGAGTACGACTGGAGCGCCTTCGCCGTCATCACCAGCCTGCACCCGGGCCAC
GCGCTCTTCCTGGAGGGCGTGCGCGCCGTCGCCGACGCCAGCCACGTGAGTTGGCGGCTGCTGGACGTGGTCACGCTGGAGCTGGGCCCGGGAGGGCCGCGCGCG
CGCACGCAGCGCCTGCTGCGCCAGCTCGACGCGCCCGTGTTTGTGGCCTACTGCTCGCGCGAGGAGGCCGAGGTGCTCTTCGCCGAGGCGGCGCAGGCCGGTCTG
GTGGGGCCCGGCCACGTGTGGCTGGTGCCCAACCTGGCGCTGGGCAGCACCGATGCGCCCCCCGCCACCTTCCCCGTGGGCCTCATCAGCGTCGTCACCGAGAGC
TGGCGCCTCAGCCTGCGCCAGAAGGTGCGCGACGGCGTGGCCATTCTGGCCCTGGGCGCCCACAGCTACTGGCGCCAGCATGGAACCCTGCCAGCCCCGGCCGGG
GACTGCCGTGTTCACCCTGGGCCCGTCAGCCCTGCCCGGGAGGCCTTCTACAGGCACCTACTGAATGTCACCTGGGAGGGCCGAGACTTCTCCTTCAGCCCTGGT
GGGTACCTGGTCCAGCCCACCATGGTGGTGATCGCCCTCAACCGGCACCGCCTCTGGGAGATGGTGGGGCGCTGGGAGCATGGCGTCCTATACATGAAGTACCCC
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>GRIN2C|2905|protein
MGGALGPALLLTSLFGAWAGLGPGQGEQGMTVAVVFSSSGPPQAQFRARLTPQSFLDLPLEIQPLTVGVNTTNPSSLLTQICGLLGAAHVHGIVFEDNVDTEAVA
QILDFISSQTHVPILSISGGSAVVLTPKEPGSAFLQLGVSLEQQLQVLFKVLEEYDWSAFAVITSLHPGHALFLEGVRAVADASHVSWRLLDVVTLELGPGGPRA
RTQRLLRQLDAPVFVAYCSREEAEVLFAEAAQAGLVGPGHVWLVPNLALGSTDAPPATFPVGLISVVTESWRLSLRQKVRDGVAILALGAHSYWRQHGTLPAPAG
DCRVHPGPVSPAREAFYRHLLNVTWEGRDFSFSPGGYLVQPTMVVIALNRHRLWEMVGRWEHGVLYMKYPVWPRYSASLQPVVDSRHLTVATLEERPFVIVESPD
PGTGGCVPNTVPCRRQSNHTFSSGDVAPYTKLCCKGFCIDILKKLARVVKFSYDLYLVTNGKHGKRVRGVWNGMIGEVYYKRADMAIGSLTINEERSEIVDFSVP
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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 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top