Genomic Map
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Target Gene Details
Entrez Gene ID: | 5313 |
Gene Name: | pyruvate kinase, liver and RBC |
Gene Aliases: |
PK1, PKL, PKR, PKRL, RPK |
Location: |
Chr.1:155289293-155301434 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| PKLR | NM_000298.5 | NP_000289.1 | ||
| XM_017001493.1 | XP_016856982.1 | |||
| AB015983.1 | BAA31706.1 | |||
| BC025737.1 | AAH25737.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv3032 | Chr.1:155285619 - 155318185 on Build GRCh38 | Insertion |
 LOC105371451
PKLR
FDPS
HCN3
|
| nsv831636 | Chr.1:155249432 - 155475073 on Build GRCh38 | Loss |
CLK2
ASH1L
LOC105371451
RUSC1-AS1
PKLR
FDPS
MIR555
POU5F1P4
HCN3
RUSC1
SCAMP3
FAM189B
|
| esv33869 | Chr.1:155253492 - 155948170 on Build GRCh38 | Loss |
SCARNA26A
LOC100505728
ASH1L
YY1AP1
DAP3
RUSC1-AS1
GON4L
FDPS
MSTO2P
RUSC1
PKLR
SCARNA4
ASH1L-AS1
RIT1
CLK2
RXFP4
KIAA0907
SNORA80E
SCAMP3
SYT11
LOC105371451
MIR555
MSTO1
SCARNA26B
POU5F1P4
HCN3
ARHGEF2
FAM189B
|
| nsv952214 | Chr.1:155279610 - 155304509 on Build GRCh38 | Deletion |
PKLR
HCN3
|
| dgv3n68 | Chr.1:155122502 - 155343618 on Build GRCh38 | Loss |
CLK2
ASH1L
TRIM46
EFNA1
RUSC1-AS1
FDPS
THBS3
RUSC1
SCAMP3
GBAP1
KRTCAP2
GBA
LOC105371451
DPM3
MIR92B
SLC50A1
PKLR
MTX1
MUC1
HCN3
FAM189B
|
Back To TopMore Information
Set Membership: |
Intragenic
Non-exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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