Assay Details
Target Gene Details
Entrez Gene ID: | 93343 |
Gene Name: | multivesicular body subunit 12A |
Gene Aliases: |
CFBP, FAM125A |
Location: |
Chr.19:17405686-17425339 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 10 - Exon 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MVB12A | NM_001304547.1 | NP_001291476.1 | ||
NM_138401.3 | NP_612410.1 | |||
AK057057.1 | ||||
AK289487.1 | ||||
BC007883.2 | AAH07883.2 | |||
BC011840.2 | AAH11840.1 | |||
BP394542.1 | ||||
BY996463.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833768 | Chr.19:17338840 - 17526738 on Build GRCh38 | Loss | LOC105372343 GTPBP3 SLC27A1 PGLS FAM129C BST2 BISPR MVB12A TMEM221 PLVAP NXNL1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |