Assay Details
Target Gene Details
Entrez Gene ID: | 8930 |
Gene Name: | methyl-CpG binding domain 4, DNA glycosylase |
Gene Aliases: |
MED1 |
Location: |
Chr.3:129430944-129440179 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MBD4 | NM_001276270.1 | 1 | 258 | NP_001263199.1 |
NM_001276271.1 | 1 | 258 | NP_001263200.1 | |
NM_001276272.1 | 1 | 258 | NP_001263201.1 | |
NM_001276273.1 | 1 | 258 | NP_001263202.1 | |
NM_003925.2 | 1 | 258 | NP_003916.1 | |
AF072250.1 | 1 | 88 | AAC68879.1 | |
AF114784.1 | AAD22195.1 | |||
AF532602.1 | 1 | 86 | AAP97338.1 | |
AK303013.1 | 1 | 114 | ||
AK312878.1 | ||||
BP370521.1 | 1 | 259 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2725901 | Chr.3:129380821 - 129487939 on Build GRCh38 | Deletion | MBD4 SNORA7B RPL32P3 IFT122 EFCAB12 |
esv3597741 | Chr.3:129383049 - 129486193 on Build GRCh38 | Loss | MBD4 SNORA7B RPL32P3 IFT122 EFCAB12 |
nsv591668 | Chr.3:129403449 - 129490335 on Build GRCh38 | Gain | MBD4 IFT122 EFCAB12 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |