| Entrez Gene ID | 1106 |
|---|---|
| Official Gene Symbol | CHD2 (GeneCards) |
| Full name | chromodomain helicase DNA binding protein 2 |
| Location | 15q26.1 |
| Other ids | Vega : OTTHUMG00000185958 MIM : 602119 HGNC : HGNC:1917 Ensembl : ENSG00000173575 |
| Other names | EEOC |
| Summary | The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
Found 8 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1222 | 1106 | CHD2 | 15 | 93467760 | 93467760 | Autism Spectrum Disorders | NextSeq500 v2 |
| 18976 | 1106 | CHD2 | 15 | 93471363 | 93471363 | Asymptomatic | NextSeq500 v2 HiSeq X Ten |
| 19150 | 1106 | CHD2 | 15 | 93549892 | 93549892 | Asymptomatic | NextSeq500 v2 HiSeq X Ten |
| 19277 | 1106 | CHD2 | 15 | 93494079 | 93494079 | Xeroderma Pigmentosum | NextSeq500 v2 HiSeq X Ten |
| 19322 | 1106 | CHD2 | 15 | 93544653 | 93544653 | Xeroderma Pigmentosum | NextSeq500 v2 HiSeq X Ten |
| 29349 | 1106 | CHD2 | 15 | 93467760 | 93467760 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq X Ten MiSeq |
| 29889 | 1106 | CHD2 | 15 | 93467760 | 93467760 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq X Ten MiSeq NextSeq500 |
| 34545 | 1106 | CHD2 | 15 | 93543663 | 93543663 | Asymptomatic | NextSeq500 v2 HiSeq X Ten MiSeq NextSeq500 Whole Genome Sequencing Ion Torrent PGM Sequencing |