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: | Within Intron 10 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| PKLR | NM_000298.5 | NP_000289.1 | ||
| NM_181871.3 | NP_870986.1 | |||
| XM_006711386.3 | XP_006711449.1 | |||
| XM_011509640.2 | XP_011507942.1 | |||
| AB015983.1 | BAA31706.1 | |||
| AK225947.1 | ||||
| AK298399.1 | ||||
| BC025737.1 | AAH25737.1 | |||
| M15465.1 | AAA60104.1 |
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 |
 HCN3
PKLR
LOC105371451
FDPS
|
| nsv831636 | Chr.1:155249432 - 155475073 on Build GRCh38 | Loss |
HCN3
MIR555
ASH1L
POU5F1P4
CLK2
RUSC1
FAM189B
PKLR
SCAMP3
LOC105371451
RUSC1-AS1
FDPS
|
| esv33869 | Chr.1:155253492 - 155948170 on Build GRCh38 | Loss |
HCN3
GON4L
ASH1L
ASH1L-AS1
SYT11
RUSC1-AS1
MIR555
SCARNA26A
CLK2
SNORA80E
RUSC1
LOC105371451
MSTO2P
FDPS
SCARNA26B
LOC100505728
ARHGEF2
POU5F1P4
YY1AP1
SCARNA4
FAM189B
PKLR
RIT1
RXFP4
MSTO1
DAP3
KIAA0907
SCAMP3
|
| nsv952214 | Chr.1:155279610 - 155304509 on Build GRCh38 | Deletion |
HCN3
PKLR
|
| dgv3n68 | Chr.1:155122502 - 155343618 on Build GRCh38 | Loss |
HCN3
THBS3
ASH1L
GBA
MTX1
MIR92B
FAM189B
PKLR
RUSC1-AS1
EFNA1
SLC50A1
DPM3
CLK2
KRTCAP2
RUSC1
MUC1
SCAMP3
LOC105371451
GBAP1
TRIM46
FDPS
|
Back To TopMore Information
Set Membership: |
Intragenic
Intronic
Non-exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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