Product Details
- SNP ID
-
rs201533615
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.10:102260060 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTATGTGTTCTACAGGATGAAGAAC[A/G]GGATCCTCTGCTGCATAGTTTCGGT
- Phenotype
-
MIM: 603698
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
GBF1
PubMed Links
Gene Details
- Gene
- GBF1
- Gene Name
- golgi brefeldin A resistant guanine nucleotide exchange factor 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001199378.1 |
401 |
Missense Mutation |
CAG,CGG |
Q36R |
NP_001186307.1 |
NM_001199379.1 |
401 |
Missense Mutation |
CAG,CGG |
Q36R |
NP_001186308.1 |
NM_004193.2 |
401 |
Missense Mutation |
CAG,CGG |
Q36R |
NP_004184.1 |
XM_005270261.1 |
401 |
Missense Mutation |
CAG,CGG |
Q36R |
XP_005270318.1 |
XM_006718047.1 |
401 |
Missense Mutation |
CAG,CGG |
Q36R |
XP_006718110.1 |
XM_006718048.1 |
401 |
Missense Mutation |
CAG,CGG |
Q36R |
XP_006718111.1 |
XM_006718049.1 |
401 |
Missense Mutation |
CAG,CGG |
Q36R |
XP_006718112.1 |
XM_006718050.1 |
401 |
Missense Mutation |
CAG,CGG |
Q36R |
XP_006718113.1 |
XM_011540312.1 |
401 |
Missense Mutation |
CAG,CGG |
Q36R |
XP_011538614.1 |
XM_011540313.1 |
401 |
Missense Mutation |
CAG,CGG |
Q36R |
XP_011538615.1 |
XM_011540314.2 |
401 |
Intron |
|
|
XP_011538616.1 |
XM_017016861.1 |
401 |
Missense Mutation |
CAG,CGG |
Q36R |
XP_016872350.1 |
XM_017016862.1 |
401 |
Missense Mutation |
CAG,CGG |
Q36R |
XP_016872351.1 |
XM_017016863.1 |
401 |
Missense Mutation |
CAG,CGG |
Q36R |
XP_016872352.1 |
XM_017016864.1 |
401 |
Intron |
|
|
XP_016872353.1 |
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