Genomic Map
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Target Gene Details
Entrez Gene ID: | 5213 |
Gene Name: | phosphofructokinase, muscle |
Gene Aliases: |
ATP-PFK, GSD7, PFK-1, PFK1, PFKA, PFKX, PPP1R122 |
Location: |
Chr.12:48105278-48146404 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| PFKM | XM_011538488.2 | XP_011536790.1 |
Target Gene Details
Entrez Gene ID: | 29843 |
Gene Name: | SUMO1/sentrin specific peptidase 1 |
Gene Aliases: |
SuPr-2 |
Location: |
Chr.12:48042893-48106308 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| SENP1 | NM_001267594.1 | NP_001254523.1 | ||
| NM_001267595.1 | 1 | 197 | NP_001254524.1 | |
| NR_051991.1 | 1 | 197 | ||
| NR_051992.1 | 1 | 197 | ||
| XM_006719361.3 | XP_006719424.1 | |||
| XM_006719362.2 | XP_006719425.1 | |||
| XM_011538244.2 | 1 | 62 | XP_011536546.1 | |
| XM_011538245.2 | XP_011536547.1 | |||
| XM_017019229.1 | 1 | 67 | XP_016874718.1 | |
| XM_017019230.1 | XP_016874719.1 | |||
| XM_017019231.1 | XP_016874720.1 | |||
| XM_017019232.1 | XP_016874721.1 | |||
| XM_017019233.1 | 1 | 57 | XP_016874722.1 | |
| XM_017019234.1 | XP_016874723.1 | |||
| XM_017019235.1 | XP_016874724.1 | |||
| XM_017019236.1 | 1 | 42 | XP_016874725.1 | |
| XM_017019237.1 | XP_016874726.1 | |||
| XM_017019238.1 | XP_016874727.1 | |||
| XM_017019239.1 | 1 | 55 | XP_016874728.1 | |
| XM_017019240.1 | XP_016874729.1 | |||
| AK292060.1 | ||||
| AK312874.1 | ||||
| AL582855.3 | 1 | 64 | ||
| BC045639.1 | AAH45639.2 | |||
| BI560893.1 | 1 | 62 | ||
| BX537920.1 | 1 | 197 | CAD97903.1 | |
| BX640784.1 | 1 | 41 | CAE45874.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| esv2759898 | Chr.12:48035919 - 48431716 on Build GRCh38 | Gain+Loss |
 ZNF641
PFKM
OR10AD1
H1FNT
MIR6505
ASB8
SENP1
CCDC184
C12orf54
|
| nsv508673 | Chr.12:48096003 - 48173355 on Build GRCh38 | Deletion |
PFKM
MIR6505
ASB8
SENP1
|
Back To TopMore Information
Set Membership: |
Intragenic
Exonic
Intronic
Non-exonic
DGV Variation
|
Panther Classification:
Molecular Function -
carbohydrate kinase
kinase
transferase
metabolite interconversion enzyme
protease
Gene Ontology Categories:
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