Assay Details
Target Gene Details
Entrez Gene ID: | 4239 |
Gene Name: | microfibrillar associated protein 4 |
Gene Aliases: |
- |
Location: |
Chr.17:19383442-19387219 on Build GRCh38 |
Assay Gene Location: | Within Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MFAP4 | NM_001198695.1 | 3 | 336 | NP_001185624.1 |
NM_002404.2 | 3 | 227 | NP_002395.1 | |
AK293056.1 | 3 | 198 | ||
AK304528.1 | 3 | 307 | ||
BC062415.1 | 2 | 164 | AAH62415.1 | |
BI765707.1 | 3 | 200 | ||
BP371800.1 | 3 | 227 | ||
L38486.1 | 2 | 167 | AAB00968.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3582561 | Chr.17:19240831 - 19585268 on Build GRCh38 | Loss | SNORA59B EPN2 MAPK7 EPN2-AS1 SLC47A1 RNF112 EPN2-IT1 RPS2P46 MIR1180 B9D1 MFAP4 |
nsv953845 | Chr.17:19377788 - 19387787 on Build GRCh38 | Deletion | MAPK7 B9D1 MFAP4 |
nsv1061317 | Chr.17:19047542 - 20322438 on Build GRCh38 | Gain | CCDC144CP GRAP MAPK7 RNF112 SLC47A2 SNORD3B-2 LOC388436 ALDH3A1 LOC100131943 LOC79999 ALDH3A2 SNORD3D SPECC1 EPN2-AS1 SLC47A1 EPN2-IT1 MIR1180 ULK2 B9D1 MFAP4 SNORD3A SNORA59B AKAP10 SNORD3C SNORD3B-1 EPN2 RPS2P46 LOC102724624 GRAPL |
nsv574574 | Chr.17:19384106 - 19387191 on Build GRCh38 | Gain | MFAP4 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |