Product Details
- SNP ID
-
rs11609399
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:48107378 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- CTCTATTTCTAGGAGGCAGCCATGC[A/T]TAAAGACGAGTTTCATCTGAAATTT
- Phenotype
-
MIM: 610681
MIM: 612157
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
PFKM
PubMed Links
Gene Details
- Gene
- PFKM
- Gene Name
- phosphofructokinase, muscle
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000289.5 |
14 |
Intron |
|
|
NP_000280.1 |
| NM_001166686.1 |
14 |
Missense Mutation |
CAT,CTT |
H2L |
NP_001160158.1 |
| NM_001166687.1 |
14 |
Intron |
|
|
NP_001160159.1 |
| NM_001166688.1 |
14 |
Intron |
|
|
NP_001160160.1 |
| XM_005268974.1 |
14 |
Missense Mutation |
CAT,CTT |
H2L |
XP_005269031.1 |
| XM_005268975.1 |
14 |
Missense Mutation |
CAT,CTT |
H2L |
XP_005269032.1 |
| XM_005268976.3 |
14 |
Missense Mutation |
CAT,CTT |
H2L |
XP_005269033.1 |
| XM_005268977.1 |
14 |
Missense Mutation |
CAT,CTT |
H2L |
XP_005269034.1 |
| XM_005268978.2 |
14 |
Missense Mutation |
CAT,CTT |
H2L |
XP_005269035.1 |
| XM_005268979.1 |
14 |
Missense Mutation |
CAT,CTT |
H2L |
XP_005269036.1 |
| XM_011538487.1 |
14 |
Missense Mutation |
CAT,CTT |
H2L |
XP_011536789.1 |
| XM_011538488.2 |
14 |
Intron |
|
|
XP_011536790.1 |
| XM_017019467.1 |
14 |
Missense Mutation |
CAT,CTT |
H2L |
XP_016874956.1 |
| XM_017019468.1 |
14 |
Missense Mutation |
CAT,CTT |
H2L |
XP_016874957.1 |
| XM_017019469.1 |
14 |
Missense Mutation |
CAT,CTT |
H2L |
XP_016874958.1 |
- Gene
- SENP1
- Gene Name
- SUMO1/sentrin specific peptidase 1
There are no transcripts associated with this gene.
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