Gene: SYNGAP1 ENSG00000197283

Description

synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:11497]

Gene Synonyms

KIAA1938, MRD5, RASA1, RASA5, SYNGAP

Location

Chromosome 6: 33,387,847-33,421,466 forward strand.

GRCh37:CM000668.1

View alleles of this gene on alternative sequences

About this gene

This gene has 9 transcripts (splice variants), 1 gene allele, 9 paralogues and is associated with 7 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000418600.2	SYNGAP1-001	5916	1343aa	ENSP00000403636.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS34434	Q96PV0	NM_006772.2	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000428982.2	SYNGAP1-003	4339	1284aa	ENSP00000412475.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q96PV0	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000293748.5	SYNGAP1-201	4095	1299aa	ENSP00000293748.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q96PV0	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000449372.2	SYNGAP1-009	3847	1279aa	ENSP00000416519.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B7ZCA0	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000496374.1	SYNGAP1-004	4556	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000486399.1	SYNGAP1-007	479	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000495633.1	SYNGAP1-005	260	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000479510.1	SYNGAP1-002	2061	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000470232.1	SYNGAP1-008	394	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: SYNGAP1 ENSG00000197283

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Gene: SYNGAP1 ENSG00000197283

Summary