Product Details
- SNP ID
-
rs138533417
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:56729338 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCTGTCTGTTCCATGCGCTCACAGT[C/T]GAGGCTGACCTCACTCGTGTCCATA
- Phenotype
-
MIM: 612115
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ARHGEF3
PubMed Links
Gene Details
- Gene
- ARHGEF3
- Gene Name
- Rho guanine nucleotide exchange factor 3
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001128615.1 |
2063 |
Missense Mutation |
AAC,GAC |
N537D |
NP_001122087.1 |
| NM_001128616.1 |
2063 |
Missense Mutation |
AAC,GAC |
N511D |
NP_001122088.1 |
| NM_001289698.1 |
2063 |
Missense Mutation |
AAC,GAC |
N511D |
NP_001276627.1 |
| NM_019555.2 |
2063 |
Missense Mutation |
AAC,GAC |
N505D |
NP_062455.1 |
| XM_005265186.4 |
2063 |
Missense Mutation |
AAC,GAC |
N537D |
XP_005265243.1 |
| XM_005265187.3 |
2063 |
Missense Mutation |
AAC,GAC |
N537D |
XP_005265244.1 |
| XM_011533764.1 |
2063 |
Missense Mutation |
AAC,GAC |
N523D |
XP_011532066.1 |
| XM_011533765.1 |
2063 |
Missense Mutation |
AAC,GAC |
N506D |
XP_011532067.1 |
| XM_011533766.2 |
2063 |
Missense Mutation |
AAC,GAC |
N506D |
XP_011532068.1 |
| XM_011533767.1 |
2063 |
Missense Mutation |
AAC,GAC |
N391D |
XP_011532069.1 |
| XM_017006502.1 |
2063 |
Missense Mutation |
AAC,GAC |
N517D |
XP_016861991.1 |
| XM_017006503.1 |
2063 |
UTR 3 |
|
|
XP_016861992.1 |
| XM_017006504.1 |
2063 |
UTR 3 |
|
|
XP_016861993.1 |
| XM_017006505.1 |
2063 |
UTR 3 |
|
|
XP_016861994.1 |
| XM_017006506.1 |
2063 |
UTR 3 |
|
|
XP_016861995.1 |
View Full Product Details