Assay Details
Target Gene Details
Entrez Gene ID: | 5834 |
Gene Name: | phosphorylase, glycogen; brain |
Gene Aliases: |
GPBB |
Location: |
Chr.20:25248070-25298012 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PYGB | NM_002862.3 | NP_002853.2 | ||
AB209080.1 | BAD92317.1 | |||
AK299697.1 | ||||
AK309036.1 | ||||
BC017045.2 | AAH17045.1 | |||
BC030795.2 | AAH30795.1 | |||
BQ433140.1 | ||||
J03544.1 | AAA59597.1 | |||
U47025.1 | AAB60395.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv779e214 | Chr.20:25104610 - 25367702 on Build GRCh38 | Gain | LOC105372580 ABHD12 ENTPD6 LOC101926889 PYGB LOC284798 |
nsv522873 | Chr.20:23923336 - 26134874 on Build GRCh38 | Gain | VN1R108P LOC105372580 ENTPD6 LOC101926955 FAM182A NINL ZNF337 LOC284798 APMAP CST7 LOC105372582 GINS1 ABHD12 NANP GGTLC1 LOC100134868 FLJ33581 LOC105372585 FAM182B VSX1 LOC101926935 ACSS1 NCOR1P1 LOC101926889 PYGB SYNDIG1 ZNF337-AS1 |
nsv585746 | Chr.20:25090818 - 25489420 on Build GRCh38 | Gain | GINS1 LOC105372580 ABHD12 ENTPD6 LOC101926889 PYGB NINL LOC284798 |
dgv4290n100 | Chr.20:25086650 - 25494993 on Build GRCh38 | Gain | GINS1 LOC105372580 ABHD12 ENTPD6 LOC101926889 PYGB NINL LOC284798 |
nsv833948 | Chr.20:25251090 - 25429904 on Build GRCh38 | Loss | GINS1 ABHD12 PYGB |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |