Evidence Details for GRIN2A

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Basic Information Top

Gene Symbol:	GRIN2A ( NMDAR2A,NR2A )
Gene Full Name:	glutamate receptor, ionotropic, N-methyl D-aspartate 2A
Band:	16p13.2
Quick Links	Entrez ID:2903; OMIM: 138253; Uniprot ID:NMDE1_HUMAN; ENSEMBL ID: ENSG00000183454; HGNC ID: 4585
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>GRIN2A|2903|nucleotide
ATGGGCAGAGTGGGCTATTGGACCCTGCTGGTGCTGCCGGCCCTTCTGGTCTGGCGCGGTCCGGCGCCGAGCGCGGCGGCGGAGAAGGGTCCCCCCGCGCTAAAT
ATTGCGGTGATGCTGGGTCACAGCCACGACGTGACAGAGCGCGAACTTCGAACACTGTGGGGCCCCGAGCAGGCGGCGGGGCTGCCCCTGGACGTGAACGTGGTA
GCTCTGCTGATGAACCGCACCGACCCCAAGAGCCTCATCACGCACGTGTGCGACCTCATGTCCGGGGCACGCATCCACGGCCTCGTGTTTGGGGACGACACGGAC
CAGGAGGCCGTAGCCCAGATGCTGGATTTTATCTCCTCCCACACCTTCGTCCCCATCTTGGGCATTCATGGGGGCGCATCTATGATCATGGCTGACAAGGATCCG
ACGTCTACCTTCTTCCAGTTTGGAGCGTCCATCCAGCAGCAAGCCACGGTCATGCTGAAGATCATGCAGGATTATGACTGGCATGTCTTCTCCCTGGTGACCACT
ATCTTCCCTGGCTACAGGGAATTCATCAGCTTCGTCAAGACCACAGTGGACAACAGCTTTGTGGGCTGGGACATGCAGAATGTGATCACACTGGACACTTCCTTT
GAGGATGCAAAGACACAAGTCCAGCTGAAGAAGATCCACTCTTCTGTCATCTTGCTCTACTGTTCCAAAGACGAGGCTGTTCTCATTCTGAGTGAGGCCCGCTCC
CTTGGCCTCACCGGGTATGATTTCTTCTGGATTGTCCCCAGCTTGGTCTCTGGGAACACGGAGCTCATCCCAAAAGAGTTTCCATCGGGACTCATTTCTGTCTCC
TACGATGACTGGGACTACAGCCTGGAGGCGAGAGTGAGGGACGGCATTGGCATCCTAACCACCGCTGCATCTTCTATGCTGGAGAAGTTCTCCTACATCCCCGAG
GCCAAGGCCAGCTGCTACGGGCAGATGGAGAGGCCAGAGGTCCCGATGCACACCTTGCACCCATTTATGGTCAATGTTACATGGGATGGCAAAGACTTATCCTTC
ACTGAGGAAGGCTACCAGGTGCACCCCAGGCTGGTGGTGATTGTGCTGAACAAAGACCGGGAATGGGAAAAGGTGGGCAAGTGGGAGAACCATACGCTGAGCCTG
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>GRIN2A|2903|protein
MGRVGYWTLLVLPALLVWRGPAPSAAAEKGPPALNIAVMLGHSHDVTERELRTLWGPEQAAGLPLDVNVVALLMNRTDPKSLITHVCDLMSGARIHGLVFGDDTD
QEAVAQMLDFISSHTFVPILGIHGGASMIMADKDPTSTFFQFGASIQQQATVMLKIMQDYDWHVFSLVTTIFPGYREFISFVKTTVDNSFVGWDMQNVITLDTSF
EDAKTQVQLKKIHSSVILLYCSKDEAVLILSEARSLGLTGYDFFWIVPSLVSGNTELIPKEFPSGLISVSYDDWDYSLEARVRDGIGILTTAASSMLEKFSYIPE
AKASCYGQMERPEVPMHTLHPFMVNVTWDGKDLSFTEEGYQVHPRLVVIVLNKDREWEKVGKWENHTLSLRHAVWPRYKSFSDCEPDDNHLSIVTLEEAPFVIVE
DIDPLTETCVRNTVPCRKFVKINNSTNEGMNVKKCCKGFCIDILKKLSRTVKFTYDLYLVTNGKHGKKVNNVWNGMIGEVVYQRAVMAVGSLTINEERSEVVDFS
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.

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	1 (2)	0 (1)	2 (4)	1 (2)	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	10 (9)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 0

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
No Evidence.

Case Control Based Association Studies: 2

Reference	Stage	Platform	ASD Cases						Normal Controls		Result
Reference	Stage	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
CAUCASIAN
de Krom, 2008_1	Discovery	the 1536 Golden Gate bead array of Illumina (Illumina, San Diego, California).	144 (17.36%)			ASD	- (4-18)	-	404 (-)	- -
de Krom, 2008_2	Replication	Illumina 96 Golden Gate bead array	128 (14.06%)			ASD	- (4-18)	-	273 (-)	- -

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Gai, 2011	AGRE	SNP microarray	-	-	autism	-	-	-	-	1224	3801	5025

Linkage Studies Top

AutismKB 2.0

Evidence Details for GRIN2A