Assay Details
Target Gene Details
Entrez Gene ID: | 5257 |
Gene Name: | phosphorylase kinase regulatory subunit beta |
Gene Aliases: |
- |
Location: |
Chr.16:47461131-47701523 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PHKB | NM_000293.2 | NP_000284.1 | ||
NM_001031835.2 | NP_001027005.1 | |||
XM_005255983.4 | XP_005256040.1 | |||
XM_005255984.4 | XP_005256041.1 | |||
XM_017023283.1 | XP_016878772.1 | |||
XM_017023284.1 | XP_016878773.1 | |||
AK309226.1 | ||||
BC033657.1 | AAH33657.1 | |||
CR936710.1 | ||||
X84908.1 | CAA59332.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2758644 | Chr.16:47227601 - 47572376 on Build GRCh38 | Gain | ITFG1 PHKB |
esv34317 | Chr.16:47356689 - 47638568 on Build GRCh38 | Gain | ITFG1 PHKB |
dgv518e214 | Chr.16:47223909 - 47493062 on Build GRCh38 | Loss | ITFG1 PHKB |
nsv572537 | Chr.16:47377292 - 47565591 on Build GRCh38 | Loss | ITFG1 PHKB |
esv3638553 | Chr.16:47263433 - 47493062 on Build GRCh38 | Gain | ITFG1 PHKB |
esv3638561 | Chr.16:47463995 - 47559918 on Build GRCh38 | Gain | PHKB |
nsv520355 | Chr.16:47390917 - 48130866 on Build GRCh38 | Gain | ITFG1 LOC100507534 LOC101927132 PHKB ABCC12 |
nsv833217 | Chr.16:47324237 - 47493744 on Build GRCh38 | Gain | ITFG1 PHKB |
More Information
Additional Information:
For this assay, SNP(s) [rs79989501] 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 |