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: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POMC | NM_000939.3 | 1 | 268 | NP_000930.1 |
NM_001035256.2 | 1 | 268 | NP_001030333.1 | |
NM_001319204.1 | 1 | 268 | NP_001306133.1 | |
NM_001319205.1 | 1 | 268 | NP_001306134.1 | |
AI341269.1 | ||||
CB988233.1 | 1 | 342 | ||
CD106051.1 | ||||
CD108235.1 | ||||
HY050419.1 | 1 | 268 |
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 | EFR3B LINC01381 DNMT3A POMC |
esv33372 | Chr.2:25064335 - 25385947 on Build GRCh38 | Loss | DTNB MIR1301 EFR3B LINC01381 DNMT3A POMC |
nsv1008732 | Chr.2:24907673 - 25349661 on Build GRCh38 | Loss | MIR1301 EFR3B DNAJC27 LINC01381 DNMT3A POMC DNAJC27-AS1 ADCY3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |