Product Details
- SNP ID
-
rs199516455
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:54923200 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCCATAGCTAGTGCCACCGAGGTCT[C/T]GCTGGCTGCAACTGCCACCCATACA
- Phenotype
-
MIM: 311790
MIM: 300132
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
PFKFB1
PubMed Links
Gene Details
- Gene
- PFKFB1
- Gene Name
- 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
There are no transcripts associated with this gene.
- Gene
- TRO
- Gene Name
- trophinin
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001039705.2 |
1028 |
Missense Mutation |
TCG,TTG |
S223L |
NP_001034794.1 |
NM_001271183.1 |
1028 |
Intron |
|
|
NP_001258112.1 |
NM_001271184.1 |
1028 |
Intron |
|
|
NP_001258113.1 |
NM_016157.3 |
1028 |
Missense Mutation |
TCG,TTG |
S223L |
NP_057241.2 |
NM_177556.2 |
1028 |
Missense Mutation |
TCG,TTG |
S223L |
NP_808224.1 |
NM_177557.2 |
1028 |
Intron |
|
|
NP_808225.1 |
XM_006724600.2 |
1028 |
Missense Mutation |
TCG,TTG |
S223L |
XP_006724663.1 |
XM_011530808.1 |
1028 |
Missense Mutation |
TCG,TTG |
S223L |
XP_011529110.1 |
XM_011530809.1 |
1028 |
Missense Mutation |
TCG,TTG |
S223L |
XP_011529111.1 |
XM_011530811.2 |
1028 |
Missense Mutation |
TCG,TTG |
S223L |
XP_011529113.1 |
XM_011530812.1 |
1028 |
Missense Mutation |
TCG,TTG |
S223L |
XP_011529114.1 |
XM_011530813.1 |
1028 |
Missense Mutation |
TCG,TTG |
S223L |
XP_011529115.1 |
XM_011530814.1 |
1028 |
Missense Mutation |
TCG,TTG |
S179L |
XP_011529116.1 |
XM_017029767.1 |
1028 |
Missense Mutation |
TCG,TTG |
S223L |
XP_016885256.1 |
XM_017029768.1 |
1028 |
Missense Mutation |
TCG,TTG |
S179L |
XP_016885257.1 |
XM_017029769.1 |
1028 |
Missense Mutation |
TCG,TTG |
S223L |
XP_016885258.1 |
XM_017029770.1 |
1028 |
Missense Mutation |
TCG,TTG |
S223L |
XP_016885259.1 |
XM_017029771.1 |
1028 |
Missense Mutation |
TCG,TTG |
S223L |
XP_016885260.1 |
XM_017029772.1 |
1028 |
Missense Mutation |
TCG,TTG |
S179L |
XP_016885261.1 |
XM_017029773.1 |
1028 |
Missense Mutation |
TCG,TTG |
S179L |
XP_016885262.1 |
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