Assay Details
Target Gene Details
Entrez Gene ID: | 5223 |
Gene Name: | phosphoglycerate mutase 1 |
Gene Aliases: |
HEL-S-35, PGAM-B, PGAMA |
Location: |
Chr.10:97426125-97433444 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 3 - Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PGAM1 | NM_001317079.1 | NP_001304008.1 | ||
NM_002629.3 | NP_002620.1 | |||
AK223096.1 | BAD96816.1 | |||
AK292216.1 | ||||
AK293023.1 | ||||
AK295991.1 | ||||
AK296619.1 | ||||
AK297491.1 | ||||
AK312351.1 | ||||
AK315910.1 | ||||
BC066959.1 | AAH66959.1 | |||
BC157873.1 | ||||
CR541659.1 | CAG46460.1 | |||
CR541744.1 | CAG46544.1 | |||
EU794644.1 | ||||
J04173.1 | AAA60071.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv467440 | Chr.10:97375027 - 97445034 on Build GRCh38 | Loss | PGAM1 EXOSC1 RRP12 LOC644215 |
nsv948158 | Chr.10:97429563 - 97433338 on Build GRCh38 | Duplication | PGAM1 |
More Information
Additional Information:
Set Membership: |
Intragenic Non-exonic DGV Variation Validated |