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 11 |
| 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
RUSC1-AS1
ASH1L
RUSC1
POU5F1P4
SCAMP3
PKLR
LOC105371451
CLK2
MIR555
FDPS
FAM189B
|
| esv33869 | Chr.1:155253492 - 155948170 on Build GRCh38 | Loss |
ASH1L
YY1AP1
SCAMP3
PKLR
LOC105371451
CLK2
SCARNA4
SCARNA26A
SYT11
GON4L
SCARNA26B
RXFP4
RUSC1-AS1
SNORA80E
RUSC1
LOC100505728
POU5F1P4
FDPS
ASH1L-AS1
ARHGEF2
HCN3
MSTO2P
MSTO1
KIAA0907
MIR555
DAP3
FAM189B
RIT1
|
| nsv952214 | Chr.1:155279610 - 155304509 on Build GRCh38 | Deletion |
HCN3
PKLR
|
| nsv436027 | Chr.1:155260761 - 155291532 on Build GRCh38 | Insertion |
HCN3
SCAMP3
PKLR
CLK2
|
| esv23319 | Chr.1:155257268 - 155292883 on Build GRCh38 | Gain |
HCN3
SCAMP3
PKLR
CLK2
|
| dgv3n68 | Chr.1:155122502 - 155343618 on Build GRCh38 | Loss |
DPM3
RUSC1-AS1
ASH1L
TRIM46
RUSC1
SCAMP3
PKLR
LOC105371451
CLK2
GBA
FDPS
THBS3
MIR92B
EFNA1
HCN3
MTX1
KRTCAP2
SLC50A1
GBAP1
FAM189B
MUC1
|
Back To TopMore Information
Set Membership: |
Intragenic
Intronic
Non-exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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