Assay Details
Target Gene Details
Entrez Gene ID: | 5443 |
Gene Name: | proopiomelanocortin |
Gene Aliases: |
ACTH, CLIP, LPH, MSH, NPP, POC |
Location: |
Chr.2:25160853-25168851 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POMC | NM_000939.3 | NP_000930.1 | ||
NM_001035256.2 | NP_001030333.1 | |||
NM_001319204.1 | NP_001306133.1 | |||
NM_001319205.1 | NP_001306134.1 | |||
BC065832.1 | AAH65832.1 | |||
M28636.1 | AAA60139.1 | |||
T29537.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv57n68 | Chr.2:25041473 - 25257024 on Build GRCh38 | Loss | LINC01381 POMC EFR3B DNMT3A |
esv33372 | Chr.2:25064335 - 25385947 on Build GRCh38 | Loss | MIR1301 LINC01381 DTNB POMC EFR3B DNMT3A |
nsv1008732 | Chr.2:24907673 - 25349661 on Build GRCh38 | Loss | MIR1301 LINC01381 DNAJC27-AS1 POMC EFR3B ADCY3 DNAJC27 DNMT3A |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |