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 | PYGB LOC284798 LOC101926889 LOC105372580 ENTPD6 ABHD12 |
nsv828708 | Chr.20:25243259 - 25250965 on Build GRCh38 | Gain | PYGB LOC105372580 |
nsv522873 | Chr.20:23923336 - 26134874 on Build GRCh38 | Gain | VSX1 GINS1 LOC105372585 NANP LOC105372580 LOC105372582 NCOR1P1 FLJ33581 APMAP SYNDIG1 FAM182A ACSS1 PYGB GGTLC1 LOC284798 FAM182B NINL ENTPD6 LOC101926935 VN1R108P LOC101926955 LOC101926889 ZNF337 ZNF337-AS1 ABHD12 LOC100134868 CST7 |
nsv585746 | Chr.20:25090818 - 25489420 on Build GRCh38 | Gain | PYGB LOC284798 LOC101926889 GINS1 NINL LOC105372580 ENTPD6 ABHD12 |
dgv4290n100 | Chr.20:25086650 - 25494993 on Build GRCh38 | Gain | PYGB LOC284798 LOC101926889 GINS1 NINL LOC105372580 ENTPD6 ABHD12 |
More Information
Additional Information:
For this assay, SNP(s) [rs68007865] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |