Assay Details
Target Gene Details
Entrez Gene ID: | 5373 |
Gene Name: | phosphomannomutase 2 |
Gene Aliases: |
CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2 |
Location: |
Chr.16:8797813-8849337 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PMM2 | NM_000303.2 | 1 | 33 | NP_000294.1 |
XM_005255374.4 | 1 | 33 | XP_005255431.1 | |
AK291537.1 | ||||
AK296123.1 | ||||
AK296630.1 | ||||
AK299979.1 | ||||
AK300785.1 | ||||
AK304320.1 | ||||
AK311035.1 | ||||
AK312532.1 | ||||
BC008310.1 | AAH08310.1 | |||
DC366756.1 | 1 | 40 | ||
KU178265.1 | ||||
KU178266.1 | ||||
U85773.1 | AAC51368.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1047172 | Chr.16:8528343 - 8810411 on Build GRCh38 | Gain | ABAT PMM2 TMEM186 METTL22 TMEM114 |
esv3637845 | Chr.16:8773680 - 8813326 on Build GRCh38 | Gain | ABAT PMM2 TMEM186 |
esv3637841 | Chr.16:8691330 - 8808835 on Build GRCh38 | Gain | ABAT PMM2 TMEM186 |
nsv571427 | Chr.16:8746097 - 8808554 on Build GRCh38 | Gain | ABAT PMM2 TMEM186 |
dgv341n27 | Chr.16:8724825 - 8864606 on Build GRCh38 | Gain | ABAT PMM2 TMEM186 CARHSP1 |
nsv1036281 | Chr.16:8773500 - 8821048 on Build GRCh38 | Gain | ABAT PMM2 TMEM186 |
nsv571428 | Chr.16:8768414 - 8890412 on Build GRCh38 | Gain | ABAT PMM2 TMEM186 CARHSP1 LOC101929989 |
esv2763129 | Chr.16:8786703 - 8898971 on Build GRCh38 | Gain | USP7 PMM2 TMEM186 CARHSP1 LOC101929989 |
nsv571424 | Chr.16:8698055 - 8916356 on Build GRCh38 | Gain | ABAT USP7 PMM2 TMEM186 CARHSP1 LOC101929989 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |