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 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MBD4 | NM_001276270.1 | 8 | 2084 | NP_001263199.1 |
NM_001276272.1 | 8 | 2049 | NP_001263201.1 | |
NM_001276273.1 | 7 | 1148 | NP_001263202.1 | |
NM_003925.2 | 8 | 2102 | NP_003916.1 | |
XM_011513268.2 | 7 | 896 | XP_011511570.1 | |
AF072250.1 | 8 | 1932 | AAC68879.1 | |
AF114784.1 | 8 | 1897 | AAD22195.1 | |
AF532602.1 | 8 | 1877 | AAP97338.1 | |
AK312878.1 | ||||
AM180876.1 | CAJ55826.1 | |||
BC011752.2 | 8 | 1781 | AAH11752.1 | |
BY997577.1 | 1 | 559 | ||
CD678412.1 | 4 | 361 | ||
CR450305.1 | CAG29301.1 |
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 | IFT122 SNORA7B EFCAB12 RPL32P3 MBD4 |
esv3597741 | Chr.3:129383049 - 129486193 on Build GRCh38 | Loss | IFT122 SNORA7B EFCAB12 RPL32P3 MBD4 |
nsv591668 | Chr.3:129403449 - 129490335 on Build GRCh38 | Gain | IFT122 EFCAB12 MBD4 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |