Assay Details
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 Exon 33 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| PHKA2 | NM_000292.2 | 33 | 4282 | NP_000283.1 |
| XM_005274548.4 | 32 | 3982 | XP_005274605.1 | |
| XM_005274550.4 | 31 | 3952 | XP_005274607.1 | |
| XM_006724496.3 | 33 | 4060 | XP_006724559.1 | |
| XM_006724498.3 | 32 | 3730 | XP_006724561.1 | |
| XM_011545537.2 | 32 | 3961 | XP_011543839.1 | |
| XM_011545538.2 | 26 | 3104 | XP_011543840.1 | |
| XM_017029580.1 | 30 | 3435 | XP_016885069.1 | |
| AK056812.1 | 4 | 1576 | ||
| AK092480.1 | 2 | 2745 | ||
| AK289996.1 | 33 | 4003 | ||
| BC014036.2 | 33 | 4069 | AAH14036.1 | |
| D38616.1 | 33 | 4023 | BAA07606.1 | |
| X80497.1 | 33 | 3978 | CAA56662.1 |
Target Gene Details
Entrez Gene ID: | 100132163 |
Gene Name: | PHKA2 antisense RNA 1 |
Gene Aliases: |
- |
Location: |
Chr.X:18890296-18894975 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 2 - Intron 2 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| PHKA2-AS1 | NR_029379.1 |
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 |
|
| esv33517 | Chr.X:18661048 - 19128069 on Build GRCh38 | Loss |
|
| esv2752317 | Chr.X:18691267 - 19292303 on Build GRCh38 | Gain |
|
| nsv508754 | Chr.X:18860991 - 18936545 on Build GRCh38 | Insertion |
|
More Information
Set Membership: |
|

Genomic Map