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 Intron 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PMM2 | NM_000303.2 | NP_000294.1 | ||
XM_005255374.4 | XP_005255431.1 | |||
AB209659.1 | BAD92896.1 | |||
AK291537.1 | ||||
AK296630.1 | ||||
AK299979.1 | ||||
AK300785.1 | ||||
AK304320.1 | ||||
AK311035.1 | ||||
AK312532.1 | ||||
BC008310.1 | AAH08310.1 | |||
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 |
---|---|---|---|
esv3637849 | Chr.16:8837916 - 8849663 on Build GRCh38 | Loss | PMM2 |
dgv341n27 | Chr.16:8724825 - 8864606 on Build GRCh38 | Gain | PMM2 CARHSP1 TMEM186 ABAT |
nsv1036523 | Chr.16:8816897 - 8887095 on Build GRCh38 | Gain | PMM2 CARHSP1 LOC101929989 |
nsv571428 | Chr.16:8768414 - 8890412 on Build GRCh38 | Gain | PMM2 CARHSP1 TMEM186 LOC101929989 ABAT |
nsv521109 | Chr.16:8829358 - 8890412 on Build GRCh38 | Loss | PMM2 CARHSP1 LOC101929989 |
nsv1043528 | Chr.16:8839152 - 9022036 on Build GRCh38 | Gain | PMM2 CARHSP1 LOC101929989 USP7 |
esv2763129 | Chr.16:8786703 - 8898971 on Build GRCh38 | Gain | PMM2 CARHSP1 TMEM186 LOC101929989 USP7 |
esv24810 | Chr.16:8832940 - 8845843 on Build GRCh38 | Loss | PMM2 |
nsv571424 | Chr.16:8698055 - 8916356 on Build GRCh38 | Gain | PMM2 CARHSP1 TMEM186 LOC101929989 ABAT USP7 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |