Assay Details
Target Gene Details
Entrez Gene ID: | 23033 |
Gene Name: | dopey family member 1 |
Gene Aliases: |
DOP1, KIAA1117, dJ202D23.2 |
Location: |
Chr.6:83067650-83171351 on Build GRCh38 |
Assay Gene Location: | Within Intron 40 |
Target Gene Details
Entrez Gene ID: | 5238 |
Gene Name: | phosphoglucomutase 3 |
Gene Aliases: |
AGM1, IMD23, PAGM, PGM 3 |
Location: |
Chr.6:83150728-83193936 on Build GRCh38 |
Assay Gene Location: | Within Exon 15 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PGM3 | NM_001199917.1 | 14 | 4220 | NP_001186846.1 |
NM_001199918.1 | 12 | 3882 | NP_001186847.1 | |
NM_001199919.1 | NP_001186848.1 | |||
NM_015599.2 | 13 | 4084 | NP_056414.1 | |
XM_017010935.1 | XP_016866424.1 | |||
XM_017010936.1 | XP_016866425.1 | |||
XM_017010937.1 | XP_016866426.1 | |||
XM_017010938.1 | XP_016866427.1 | |||
AK021676.1 | 1 | 98 | ||
AK023685.1 | 1 | 601 | ||
AK225363.1 | ||||
AL117443.1 | 4 | 2795 | CAB55928.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1026095 | Chr.6:83040907 - 83209453 on Build GRCh38 | Gain | UBE3D PGM3 DOPEY1 RWDD2A |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |