Assay Details
Target Gene Details
Entrez Gene ID: | 5210 |
Gene Name: | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 |
Gene Aliases: |
- |
Location: |
Chr.3:48517684-48562383 on Build GRCh38 |
Assay Gene Location: | Within Intron 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PFKFB4 | NM_001317134.1 | NP_001304063.1 | ||
NM_001317135.1 | NP_001304064.1 | |||
NM_001317136.1 | NP_001304065.1 | |||
NM_001317137.1 | NP_001304066.1 | |||
NM_001317138.1 | NP_001304067.1 | |||
NM_004567.3 | NP_004558.1 | |||
XM_011533829.2 | XP_011532131.1 | |||
XM_017006614.1 | XP_016862103.1 | |||
XM_017006615.1 | XP_016862104.1 | |||
XM_017006616.1 | XP_016862105.1 | |||
XM_017006617.1 | XP_016862106.1 | |||
AF108765.1 | AAD09427.1 | |||
AK298732.1 | ||||
AK299097.1 | ||||
AK312623.1 | ||||
AY707863.1 | AAU11326.1 | |||
AY714243.1 | AAU14998.1 | |||
AY756062.1 | AAV28717.1 | |||
AY756063.1 | AAV28718.1 | |||
AY756064.1 | AAV28719.1 | |||
BC010269.1 | AAH10269.1 | |||
D49818.1 | BAA18921.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv954484 | Chr.3:48533268 - 48609567 on Build GRCh38 | Deletion | PFKFB4 SNORA94 MIR6823 MIR711 COL7A1 UCN2 UQCRC1 |
nsv1004383 | Chr.3:48506361 - 48612339 on Build GRCh38 | Loss | PFKFB4 SNORA94 MIR6823 MIR711 COL7A1 UCN2 UQCRC1 |
nsv834685 | Chr.3:48527576 - 48708341 on Build GRCh38 | Loss | PFKFB4 CELSR3 MIR6823 MIR711 MIR4793 UCN2 CELSR3-AS1 TMEM89 SNORA94 MIR6824 COL7A1 IP6K2 NCKIPSD SLC26A6 UQCRC1 |
nsv834684 | Chr.3:48344209 - 48551890 on Build GRCh38 | Gain | SHISA5 PFKFB4 MIR6823 TREX1 PLXNB1 ATRIP TMA7 FBXW12 CCDC51 |
nsv523981 | Chr.3:48478880 - 48683607 on Build GRCh38 | Loss | SHISA5 PFKFB4 CELSR3 MIR6823 MIR711 MIR4793 UCN2 CELSR3-AS1 TMEM89 SNORA94 MIR6824 COL7A1 NCKIPSD SLC26A6 UQCRC1 |
More Information
Additional Information:
For this assay, SNP(s) [rs77382486] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |