Product Details
- SNP ID
-
rs137991047
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:48523570 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACAGGAGTCAGCTTCAGGACTGTGT[A/G]CAGCGGACACTTGAGGTAGGGCAGC
- Phenotype
-
MIM: 605320
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
PFKFB4
PubMed Links
Gene Details
- Gene
- PFKFB4
- Gene Name
- 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001317134.1 |
1331 |
Missense Mutation |
CAC,TAC |
H447Y |
NP_001304063.1 |
| NM_001317135.1 |
1331 |
Missense Mutation |
CAC,TAC |
H411Y |
NP_001304064.1 |
| NM_001317136.1 |
1331 |
Missense Mutation |
CAC,TAC |
H407Y |
NP_001304065.1 |
| NM_001317137.1 |
1331 |
Missense Mutation |
CAC,TAC |
H383Y |
NP_001304066.1 |
| NM_001317138.1 |
1331 |
Missense Mutation |
CAC,TAC |
H227Y |
NP_001304067.1 |
| NM_004567.3 |
1331 |
Missense Mutation |
CAC,TAC |
H418Y |
NP_004558.1 |
| XM_011533829.2 |
1331 |
Missense Mutation |
CAC,TAC |
H420Y |
XP_011532131.1 |
| XM_017006614.1 |
1331 |
Missense Mutation |
CAC,TAC |
H447Y |
XP_016862103.1 |
| XM_017006615.1 |
1331 |
Missense Mutation |
CAC,TAC |
H412Y |
XP_016862104.1 |
| XM_017006616.1 |
1331 |
Missense Mutation |
CAC,TAC |
H406Y |
XP_016862105.1 |
| XM_017006617.1 |
1331 |
Missense Mutation |
CAC,TAC |
H407Y |
XP_016862106.1 |
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