AutismKB 2.0

Evidence Details for GRIN2B


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Basic Information Top
Gene Symbol:GRIN2B ( MGC142178,MGC142180,NMDAR2B,NR2B,hNR3 )
Gene Full Name: glutamate receptor, ionotropic, N-methyl D-aspartate 2B
Band: 12p13.1
Quick LinksEntrez ID:2904; OMIM: 138252; Uniprot ID:NMDE2_HUMAN; ENSEMBL ID: ENSG00000150086; HGNC ID: 4586
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GRIN2B|2904|nucleotide
ATGAAGCCCAGAGCGGAGTGCTGTTCTCCCAAGTTCTGGTTGGTGTTGGCCGTCCTGGCCGTGTCAGGCAGCAGAGCTCGTTCTCAGAAGAGCCCCCCCAGCATT
GGCATTGCTGTCATCCTCGTGGGCACTTCCGACGAGGTGGCCATCAAGGATGCCCACGAGAAAGATGATTTCCACCATCTCTCCGTGGTACCCCGGGTGGAACTG
GTAGCCATGAATGAGACCGACCCAAAGAGCATCATCACCCGCATCTGTGATCTCATGTCTGACCGGAAGATCCAGGGGGTGGTGTTTGCTGATGACACAGACCAG
GAAGCCATCGCCCAGATCCTCGATTTCATTTCAGCACAGACTCTCACCCCCATCCTGGGCATCCACGGGGGCTCCTCTATGATAATGGCAGATAAGGATGAATCC
TCCATGTTCTTCCAGTTTGGCCCATCAATTGAACAGCAAGCTTCCGTAATGCTCAACATCATGGAAGAATATGACTGGTACATCTTTTCTATCGTCACCACCTAT
TTCCCTGGCTACCAGGACTTTGTAAACAAGATCCGCAGCACCATTGAGAATAGCTTTGTGGGCTGGGAGCTAGAGGAGGTCCTCCTACTGGACATGTCCCTGGAC
GATGGAGATTCTAAGATCCAGAATCAGCTCAAGAAACTTCAAAGCCCCATCATTCTTCTTTACTGTACCAAGGAAGAAGCCACCTACATCTTTGAAGTGGCCAAC
TCAGTAGGGCTGACTGGCTATGGCTACACGTGGATCGTGCCCAGTCTGGTGGCAGGGGATACAGACACAGTGCCTGCGGAGTTCCCCACTGGGCTCATCTCTGTA
TCATATGATGAATGGGACTATGGCCTCCCCGCCAGAGTGAGAGATGGAATTGCCATAATCACCACTGCTGCTTCTGACATGCTGTCTGAGCACAGCTTCATCCCT
GAGCCCAAAAGCAGTTGTTACAACACCCACGAGAAGAGAATCTACCAGTCCAATATGCTAAATAGGTATCTGATCAATGTCACTTTTGAGGGGAGGAATTTGTCC
TTCAGTGAAGATGGCTACCAGATGCACCCGAAACTGGTGATAATTCTTCTGAACAAGGAGAGGAAGTGGGAAAGGGTGGGGAAGTGGAAAGACAAGTCCCTGCAG
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>GRIN2B|2904|protein
MKPRAECCSPKFWLVLAVLAVSGSRARSQKSPPSIGIAVILVGTSDEVAIKDAHEKDDFHHLSVVPRVELVAMNETDPKSIITRICDLMSDRKIQGVVFADDTDQ
EAIAQILDFISAQTLTPILGIHGGSSMIMADKDESSMFFQFGPSIEQQASVMLNIMEEYDWYIFSIVTTYFPGYQDFVNKIRSTIENSFVGWELEEVLLLDMSLD
DGDSKIQNQLKKLQSPIILLYCTKEEATYIFEVANSVGLTGYGYTWIVPSLVAGDTDTVPAEFPTGLISVSYDEWDYGLPARVRDGIAIITTAASDMLSEHSFIP
EPKSSCYNTHEKRIYQSNMLNRYLINVTFEGRNLSFSEDGYQMHPKLVIILLNKERKWERVGKWKDKSLQMKYYVWPRMCPETEEQEDDHLSIVTLEEAPFVIVE
SVDPLSGTCMRNTVPCQKRIVTENKTDEEPGYIKKCCKGFCIDILKKISKSVKFTYDLYLVTNGKHGKKINGTWNGMIGEVVMKRAYMAVGSLTINEERSEVVDF
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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) 0 (0) 2 (3) 0 (0) 3 (9) 0 (0) 1 (2) 1 (1) 52 (15)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top