Product Details
- SNP ID
-
rs144411078
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:289494 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTTGAACTGGCCCAGGGTGACAGCG[C/T]GGCCCCTCACCAGGGTGCGGTAGGG
- Phenotype
-
MIM: 602844
MIM: 603816
MIM: 608012
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ARHGDIG
PubMed Links
Gene Details
- Gene
- ARHGDIG
- Gene Name
- Rho GDP dissociation inhibitor gamma
There are no transcripts associated with this gene.
- Gene
- AXIN1
- Gene Name
- axin 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_003502.3 |
2808 |
Missense Mutation |
CAC,CGC |
H803R |
NP_003493.1 |
| NM_181050.2 |
2808 |
Missense Mutation |
CAC,CGC |
H767R |
NP_851393.1 |
| XM_011522682.2 |
2808 |
Missense Mutation |
CAC,CGC |
H857R |
XP_011520984.1 |
| XM_011522683.2 |
2808 |
Missense Mutation |
CAC,CGC |
H821R |
XP_011520985.1 |
| XM_011522684.2 |
2808 |
Missense Mutation |
CAC,CGC |
H808R |
XP_011520986.1 |
| XM_011522686.1 |
2808 |
Missense Mutation |
CAC,CGC |
H522R |
XP_011520988.1 |
| XM_017023743.1 |
2808 |
Missense Mutation |
CAC,CGC |
H852R |
XP_016879232.1 |
| XM_017023744.1 |
2808 |
Missense Mutation |
CAC,CGC |
H816R |
XP_016879233.1 |
| XM_017023745.1 |
2808 |
Missense Mutation |
CAC,CGC |
H523R |
XP_016879234.1 |
| XM_017023746.1 |
2808 |
Missense Mutation |
CAC,CGC |
H453R |
XP_016879235.1 |
| XM_017023747.1 |
2808 |
Intron |
|
|
XP_016879236.1 |
| XM_017023748.1 |
2808 |
Intron |
|
|
XP_016879237.1 |
- Gene
- PDIA2
- Gene Name
- protein disulfide isomerase family A member 2
There are no transcripts associated with this gene.
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