Product Details
- SNP ID
-
rs200216197
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.7:100681899 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGGGTCTGAGTGCAGCATCAGTGCC[C/T]GCCTCTTGGCCTTGCTGCCCTCCCC
- Phenotype
-
MIM: 612064
MIM: 139390
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
GIGYF1
PubMed Links
Gene Details
- Gene
- GIGYF1
- Gene Name
- GRB10 interacting GYF protein 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_022574.4 |
3810 |
Missense Mutation |
CAG,CGG |
Q1007R |
NP_072096.2 |
| XM_005250532.1 |
3810 |
Missense Mutation |
CAG,CGG |
Q1007R |
XP_005250589.1 |
| XM_011516472.1 |
3810 |
Missense Mutation |
CAG,CGG |
Q1007R |
XP_011514774.1 |
| XM_011516477.1 |
3810 |
Missense Mutation |
CAG,CGG |
Q1006R |
XP_011514779.1 |
| XM_017012526.1 |
3810 |
Missense Mutation |
CAG,CGG |
Q1007R |
XP_016868015.1 |
| XM_017012527.1 |
3810 |
Missense Mutation |
CAG,CGG |
Q1007R |
XP_016868016.1 |
| XM_017012528.1 |
3810 |
Missense Mutation |
CAG,CGG |
Q1007R |
XP_016868017.1 |
| XM_017012529.1 |
3810 |
Missense Mutation |
CAG,CGG |
Q1007R |
XP_016868018.1 |
| XM_017012530.1 |
3810 |
Missense Mutation |
CAG,CGG |
Q1007R |
XP_016868019.1 |
| XM_017012531.1 |
3810 |
Missense Mutation |
CAG,CGG |
Q905R |
XP_016868020.1 |
- Gene
- GNB2
- Gene Name
- G protein subunit beta 2
There are no transcripts associated with this gene.
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