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 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POMC | NM_000939.3 | 3 | 1148 | NP_000930.1 |
NM_001035256.2 | 4 | 1198 | NP_001030333.1 | |
NM_001319204.1 | 4 | 1228 | NP_001306133.1 | |
NM_001319205.1 | 3 | 1178 | NP_001306134.1 | |
BC065832.1 | 3 | 860 | AAH65832.1 | |
BT019918.1 | AAV38721.1 | |||
CD108235.1 | ||||
CR541826.1 | CAG46625.1 | |||
DQ884404.1 | ||||
M25896.1 | AAA35799.1 | |||
M28636.1 | AAA60139.1 | |||
M38297.1 | 2 | 759 | AAA60140.1 |
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 | DNMT3A LINC01381 EFR3B POMC |
esv33372 | Chr.2:25064335 - 25385947 on Build GRCh38 | Loss | DNMT3A DTNB LINC01381 MIR1301 EFR3B POMC |
nsv1008732 | Chr.2:24907673 - 25349661 on Build GRCh38 | Loss | DNAJC27 DNMT3A ADCY3 DNAJC27-AS1 LINC01381 MIR1301 EFR3B POMC |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |