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See other SYNGAP1 CNV Assays ›
Gene Symbol
SYNGAP1
Assay Reference Genome
Location

Chr.6:33440809 on build GRCh38
Cytoband
6p21.32
Assay ID Hs01982377_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 8831

Gene Name:

 synaptic Ras GTPase activating protein 1

Gene Aliases:

 MRD5, RASA1, RASA5, SYNGAP

Location:

 Chr.6:33420070-33453689 on Build GRCh38

Assay Gene Location:

 Within Exon 11
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
SYNGAP1 NM_006772.2 11 1952 NP_006763.2
AK124666.1
AK307888.1 11 1767
AL713634.1 4 608 CAD28452.1
CN412954.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv3608630 Chr.6:33439052 - 34076935 on Build GRCh38 Gain BAK1 ITPR3 LOC105375026 LINC00336 GGNBP1 ZBTB9 MIR3934 MLN IP6K3 MIR1275 MIR7159 SYNGAP1 LOC101929188 LEMD2 GRM4 LINC01016 UQCC2
nsv830637 Chr.6:33361588 - 33542927 on Build GRCh38 Loss KIFC1 MIR5004 PHF1 CUTA SYNGAP1 ZBTB9
nsv1019212 Chr.6:33430254 - 33446153 on Build GRCh38 Gain MIR5004 SYNGAP1
nsv830635 Chr.6:33270228 - 33446010 on Build GRCh38 Loss RPS18 KIFC1 ZBTB22 MIR5004 PHF1 RGL2 DAXX TAPBP VPS52 CUTA SYNGAP1 PFDN6 MIR6834 WDR46 B3GALT4 MIR6873
nsv1073969 Chr.6:31456422 - 33480523 on Build GRCh38 Deletion NEU1 SAPCD1-AS1 HCG24 TAP1 DDX39B C6orf25 HLA-DRA GPANK1 DDAH2 LY6G5C C6orf48 ZBTB9 NFKBIL1 VPS52 TAP2 SNORD84 MIR6721 HLA-DMB LY6G6E NOTCH4 ZBTB22 LOC102725068 ZBTB12 PPT2-EGFL8 HLA-DQB1-AS1 LTA AIF1 SLC39A7 BRD2 RXRB PBX2 SNORA38 MIR219A1 SNORD117 DXO LOC100294145 SNORD48 HSPA1B MIR1236 LST1 AGER HLA-DPB2 HLA-DPB1 PPP1R2P1 TNXA MSH5 CYP21A2 HLA-DQB2 TNF LOC101929163 C6orf10 HLA-DQA1 MIR6832 HLA-DQB1 HSPA1A SKIV2L LY6G6C CYP21A1P DAXX APOM LY6G6F EHMT2 LOC100507547 C4B PSMB9 HLA-DPA1 HLA-DRB1 PSMB8 RPS18 LOC100287329 PSMB8-AS1 HCP5 RNF5 PRRT1 ATP6V1G2-DDX39B HLA-DOB ATF6B C6orf47 DDX39B-AS1 SYNGAP1 ABHD16A VARS LSM2 AGPAT1 MICB MIR5004 C4A HCG23 MIR6833 SLC44A4 LTB TAPBP CFB CSNK2B COL11A2 SNORD52 SAPCD1 HCG25 HLA-DMA MSH5-SAPCD1 CLIC1 WDR46 HLA-DRB6 HLA-DRB5 HLA-DQA2 PRRC2A PPT2 STK19 KIFC1 NCR3 HLA-DOA PHF1 EGFL8 C2 MCCD1 NELFE HSPA1L B3GALT4 VWA7 RGL2 BTNL2 HSD17B8 MIR3135B C2-AS1 ATP6V1G2 GPSM3 FKBPL LY6G6D CUTA LY6G5B PFDN6 HCG26 RING1 MIR6834 BAG6 TNXB MIR4646 MIR6873
nsv1112900 Chr.6:31455323 - 33480423 on Build GRCh38 Deletion NEU1 SAPCD1-AS1 HCG24 TAP1 DDX39B C6orf25 HLA-DRA GPANK1 DDAH2 LY6G5C C6orf48 ZBTB9 NFKBIL1 VPS52 TAP2 SNORD84 MIR6721 HLA-DMB LY6G6E NOTCH4 ZBTB22 LOC102725068 ZBTB12 PPT2-EGFL8 HLA-DQB1-AS1 LTA AIF1 SLC39A7 BRD2 RXRB PBX2 SNORA38 MIR219A1 SNORD117 DXO LOC100294145 SNORD48 HSPA1B MIR1236 LST1 AGER HLA-DPB2 HLA-DPB1 PPP1R2P1 TNXA MSH5 CYP21A2 HLA-DQB2 TNF LOC101929163 C6orf10 HLA-DQA1 MIR6832 HLA-DQB1 HSPA1A SKIV2L LY6G6C CYP21A1P DAXX APOM LY6G6F EHMT2 LOC100507547 C4B PSMB9 HLA-DPA1 HLA-DRB1 PSMB8 RPS18 LOC100287329 PSMB8-AS1 HCP5 RNF5 PRRT1 ATP6V1G2-DDX39B HLA-DOB ATF6B C6orf47 DDX39B-AS1 SYNGAP1 ABHD16A VARS LSM2 AGPAT1 MICB MIR5004 C4A HCG23 MIR6833 SLC44A4 LTB TAPBP CFB CSNK2B COL11A2 SNORD52 SAPCD1 HCG25 HLA-DMA MSH5-SAPCD1 CLIC1 WDR46 HLA-DRB6 HLA-DRB5 HLA-DQA2 PRRC2A PPT2 STK19 KIFC1 NCR3 HLA-DOA PHF1 EGFL8 C2 MCCD1 NELFE HSPA1L B3GALT4 VWA7 RGL2 BTNL2 HSD17B8 MIR3135B C2-AS1 ATP6V1G2 GPSM3 FKBPL LY6G6D CUTA LY6G5B PFDN6 HCG26 RING1 MIR6834 BAG6 TNXB MIR4646 MIR6873
nsv437503 Chr.6:33440765 - 33453800 on Build GRCh38 Loss SYNGAP1
nsv1119076 Chr.6:32595823 - 33480623 on Build GRCh38 Deletion RPS18 KIFC1 HCG24 PSMB8-AS1 HLA-DOA PHF1 TAP1 HLA-DPB2 HLA-DPB1 PPP1R2P1 ZBTB9 VPS52 HLA-DOB TAP2 SYNGAP1 HLA-DQB2 B3GALT4 HLA-DMB HLA-DQA1 ZBTB22 MIR5004 HLA-DQB1 RGL2 HLA-DQB1-AS1 HSD17B8 DAXX MIR3135B TAPBP SLC39A7 BRD2 COL11A2 RXRB CUTA MIR219A1 PSMB9 HCG25 HLA-DMA PFDN6 RING1 MIR6834 HLA-DPA1 WDR46 LOC100294145 PSMB8 MIR6873 HLA-DQA2
nsv602832 Chr.6:33414464 - 33552444 on Build GRCh38 Loss MIR5004 PHF1 CUTA SYNGAP1 ZBTB9

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