Genomic Map
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Target Gene Details
Entrez Gene ID: | 5256 |
Gene Name: | phosphorylase kinase regulatory subunit alpha 2 |
Gene Aliases: |
GSD9A, PHK, PYK, PYKL, XLG, XLG2 |
Location: |
Chr.X:18892298-18984362 on Build GRCh38 |
Assay Gene Location: | Within Intron 19 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| PHKA2 | NM_000292.2 | NP_000283.1 | ||
| XM_005274548.4 | XP_005274605.1 | |||
| XM_005274550.4 | XP_005274607.1 | |||
| XM_006724496.3 | XP_006724559.1 | |||
| XM_006724498.3 | XP_006724561.1 | |||
| XM_011545537.2 | XP_011543839.1 | |||
| XM_011545538.2 | XP_011543840.1 | |||
| XM_017029580.1 | XP_016885069.1 | |||
| AK289996.1 | ||||
| BC014036.2 | AAH14036.1 | |||
| D38616.1 | BAA07606.1 | |||
| X80497.1 | CAA56662.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| esv3576793 | Chr.X:18780019 - 19298577 on Build GRCh38 | Gain |
 ADGRG2
PPEF1
PHKA2
PHKA2-AS1
LOC101928415
|
| esv33517 | Chr.X:18661048 - 19128069 on Build GRCh38 | Loss |
RS1
ADGRG2
PPEF1
PHKA2
PPEF1-AS1
PHKA2-AS1
LOC101928415
|
| esv2752317 | Chr.X:18691267 - 19292303 on Build GRCh38 | Gain |
ADGRG2
PPEF1
PHKA2
PPEF1-AS1
PHKA2-AS1
LOC101928415
|
| nsv508754 | Chr.X:18860991 - 18936545 on Build GRCh38 | Insertion |
PHKA2
PHKA2-AS1
|
Back To TopMore Information
Set Membership: |
Intragenic
Intronic
Non-exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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