Product Details
- SNP ID
-
rs147349872
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:47166776 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCCACTTACCTCTGCATCCACCTCC[C/T]GCCCAAAGAACATGTCAGATGAGAT
- Phenotype
-
MIM: 606908
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ARFGAP2
PubMed Links
Gene Details
- Gene
- ARFGAP2
- Gene Name
- ADP ribosylation factor GTPase activating protein 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001242832.1 |
2041 |
Missense Mutation |
CAG,CGG |
Q411R |
NP_001229761.1 |
| NM_032389.4 |
2041 |
Missense Mutation |
CAG,CGG |
Q439R |
NP_115765.2 |
| XM_005253166.1 |
2041 |
Missense Mutation |
CAG,CGG |
Q478R |
XP_005253223.1 |
| XM_005253167.1 |
2041 |
Missense Mutation |
CAG,CGG |
Q467R |
XP_005253224.1 |
| XM_005253168.2 |
2041 |
Missense Mutation |
CAG,CGG |
Q453R |
XP_005253225.1 |
| XM_006718346.1 |
2041 |
Missense Mutation |
CAG,CGG |
Q464R |
XP_006718409.1 |
| XM_011520405.1 |
2041 |
Missense Mutation |
CAG,CGG |
Q425R |
XP_011518707.1 |
| XM_017018413.1 |
2041 |
Missense Mutation |
CAG,CGG |
Q453R |
XP_016873902.1 |
| XM_017018414.1 |
2041 |
Missense Mutation |
CAG,CGG |
Q316R |
XP_016873903.1 |
| XM_017018415.1 |
2041 |
Missense Mutation |
CAG,CGG |
Q302R |
XP_016873904.1 |
- Gene
- C11orf49
- Gene Name
- chromosome 11 open reading frame 49
There are no transcripts associated with this gene.
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