Product Details
- SNP ID
-
rs147550265
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:66849347 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCACGGCCAGGGCTTTGATGTGCAG[C/T]GTCTTGCCCCGCTCCAGCTCCACCT
- Phenotype
-
MIM: 616109
MIM: 612810
MIM: 608786
MIM: 605385
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
C11orf80
PubMed Links
Gene Details
- Gene
- C11orf80
- Gene Name
- chromosome 11 open reading frame 80
There are no transcripts associated with this gene.
- Gene
- LRFN4
- Gene Name
- leucine rich repeat and fibronectin type III domain containing 4
There are no transcripts associated with this gene.
- Gene
- PC
- Gene Name
- pyruvate carboxylase
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000920.3 |
3312 |
Silent Mutation |
ACA,ACG |
T1057T |
NP_000911.2 |
| NM_001040716.1 |
3312 |
Silent Mutation |
ACA,ACG |
T1057T |
NP_001035806.1 |
| NM_022172.2 |
3312 |
Silent Mutation |
ACA,ACG |
T1057T |
NP_071504.2 |
| XM_005274031.4 |
3312 |
Silent Mutation |
ACA,ACG |
T1057T |
XP_005274088.1 |
| XM_005274032.4 |
3312 |
Silent Mutation |
ACA,ACG |
T1057T |
XP_005274089.1 |
| XM_006718578.3 |
3312 |
Silent Mutation |
ACA,ACG |
T1057T |
XP_006718641.1 |
| XM_006718579.3 |
3312 |
Silent Mutation |
ACA,ACG |
T550T |
XP_006718642.1 |
| XM_011545086.2 |
3312 |
Silent Mutation |
ACA,ACG |
T1057T |
XP_011543388.1 |
| XM_011545087.2 |
3312 |
Silent Mutation |
ACA,ACG |
T625T |
XP_011543389.1 |
| XM_017017868.1 |
3312 |
Silent Mutation |
ACA,ACG |
T1057T |
XP_016873357.1 |
| XM_017017869.1 |
3312 |
Silent Mutation |
ACA,ACG |
T1057T |
XP_016873358.1 |
| XM_017017870.1 |
3312 |
Silent Mutation |
ACA,ACG |
T1057T |
XP_016873359.1 |
| XM_017017871.1 |
3312 |
Silent Mutation |
ACA,ACG |
T1057T |
XP_016873360.1 |
| XM_017017872.1 |
3312 |
Silent Mutation |
ACA,ACG |
T1057T |
XP_016873361.1 |
- Gene
- RCE1
- Gene Name
- Ras converting CAAX endopeptidase 1
There are no transcripts associated with this gene.
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