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 |
 PKLR
FDPS
LOC105371451
HCN3
|
| nsv831636 | Chr.1:155249432 - 155475073 on Build GRCh38 | Loss |
ASH1L
PKLR
RUSC1-AS1
FAM189B
CLK2
POU5F1P4
MIR555
FDPS
SCAMP3
LOC105371451
RUSC1
HCN3
|
| esv33869 | Chr.1:155253492 - 155948170 on Build GRCh38 | Loss |
PKLR
ASH1L-AS1
POU5F1P4
ARHGEF2
MSTO1
DAP3
RUSC1
ASH1L
RUSC1-AS1
FAM189B
FDPS
SCAMP3
RXFP4
RIT1
LOC100505728
SNORA80E
YY1AP1
CLK2
KIAA0907
MIR555
LOC105371451
SCARNA26A
GON4L
MSTO2P
SCARNA26B
SCARNA4
SYT11
HCN3
|
| nsv436027 | Chr.1:155260761 - 155291532 on Build GRCh38 | Insertion |
PKLR
CLK2
SCAMP3
HCN3
|
| nsv952214 | Chr.1:155279610 - 155304509 on Build GRCh38 | Deletion |
PKLR
HCN3
|
| esv2758971 | Chr.1:155122502 - 155345016 on Build GRCh38 | Gain |
PKLR
GBAP1
CLK2
MIR92B
GBA
LOC105371451
RUSC1
KRTCAP2
TRIM46
DPM3
ASH1L
RUSC1-AS1
MTX1
FAM189B
FDPS
THBS3
SCAMP3
SLC50A1
MUC1
EFNA1
HCN3
|
| esv23319 | Chr.1:155257268 - 155292883 on Build GRCh38 | Gain |
PKLR
CLK2
SCAMP3
HCN3
|
Back To TopMore Information
Set Membership: |
Intragenic
Intronic
Non-exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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