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 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MBD4 | NM_001276270.1 | 3 | 1116 | NP_001263199.1 |
NM_001276271.1 | 3 | 1116 | NP_001263200.1 | |
NM_001276272.1 | 3 | 1116 | NP_001263201.1 | |
NM_001276273.1 | NP_001263202.1 | |||
NM_003925.2 | 3 | 1116 | NP_003916.1 | |
XM_011513268.2 | XP_011511570.1 | |||
AF072250.1 | 3 | 946 | AAC68879.1 | |
AF114784.1 | 3 | 911 | AAD22195.1 | |
AF532602.1 | 3 | 944 | AAP97338.1 | |
AK303013.1 | 3 | 972 | ||
AK312878.1 | 3 | 874 | ||
AM180876.1 | CAJ55826.1 | |||
BC011752.2 | 3 | 813 | AAH11752.1 | |
CR450305.1 | 3 | 770 | 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 MBD4 EFCAB12 RPL32P3 |
esv3597741 | Chr.3:129383049 - 129486193 on Build GRCh38 | Loss | IFT122 SNORA7B MBD4 EFCAB12 RPL32P3 |
nsv591668 | Chr.3:129403449 - 129490335 on Build GRCh38 | Gain | IFT122 MBD4 EFCAB12 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |