Product Details
- SNP ID
-
rs7418389
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
53
- Location
-
Chr.1:1616547 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CGAGGCTAGAGGCCAGTCCCAAAGT[T/C]TCCAGGCATCAGGGCTGCAGCCCAG
- Phenotype
-
MIM: 611141
- Polymorphism
- T/C, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
MIB2
PubMed Links
Gene Details
- Gene
- MIB2
- Gene Name
- mindbomb E3 ubiquitin protein ligase 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001170686.1 |
276 |
Missense Mutation |
CTC,TTC |
L72F |
NP_001164157.1 |
| NM_001170687.1 |
276 |
Missense Mutation |
CTC,TTC |
L72F |
NP_001164158.1 |
| NM_001170688.1 |
276 |
Missense Mutation |
CTC,TTC |
L72F |
NP_001164159.1 |
| NM_001170689.1 |
276 |
UTR 5 |
|
|
NP_001164160.1 |
| NM_080875.2 |
276 |
Missense Mutation |
CTC,TTC |
L72F |
NP_543151.2 |
| XM_006710372.1 |
276 |
Missense Mutation |
CTC,TTC |
L72F |
XP_006710435.1 |
| XM_011540731.2 |
276 |
Silent Mutation |
GTC,GTT |
V227V |
XP_011539033.1 |
| XM_011540736.2 |
276 |
Silent Mutation |
GTC,GTT |
V227V |
XP_011539038.1 |
| XM_011540737.2 |
276 |
Silent Mutation |
GTC,GTT |
V227V |
XP_011539039.1 |
| XM_011540741.2 |
276 |
Silent Mutation |
GTC,GTT |
V227V |
XP_011539043.1 |
| XM_011540742.2 |
276 |
Silent Mutation |
GTC,GTT |
V227V |
XP_011539044.1 |
| XM_017000349.1 |
276 |
Silent Mutation |
GTC,GTT |
V227V |
XP_016855838.1 |
| XM_017000350.1 |
276 |
Silent Mutation |
GTC,GTT |
V227V |
XP_016855839.1 |
| XM_017000351.1 |
276 |
Silent Mutation |
GTC,GTT |
V221V |
XP_016855840.1 |
| XM_017000352.1 |
276 |
Silent Mutation |
GTC,GTT |
V227V |
XP_016855841.1 |
| XM_017000353.1 |
276 |
Silent Mutation |
GTC,GTT |
V227V |
XP_016855842.1 |
| XM_017000354.1 |
276 |
Silent Mutation |
GTC,GTT |
V227V |
XP_016855843.1 |
| XM_017000355.1 |
276 |
Silent Mutation |
GTC,GTT |
V227V |
XP_016855844.1 |
| XM_017000356.1 |
276 |
Silent Mutation |
GTC,GTT |
V227V |
XP_016855845.1 |
| XM_017000357.1 |
276 |
Silent Mutation |
GTC,GTT |
V227V |
XP_016855846.1 |
| XM_017000358.1 |
276 |
Missense Mutation |
CTC,TTC |
L72F |
XP_016855847.1 |
| XM_017000359.1 |
276 |
Missense Mutation |
CTC,TTC |
L72F |
XP_016855848.1 |
| XM_017000360.1 |
276 |
Missense Mutation |
CTC,TTC |
L72F |
XP_016855849.1 |
| XM_017000361.1 |
276 |
Missense Mutation |
CTC,TTC |
L72F |
XP_016855850.1 |
| XM_017000362.1 |
276 |
UTR 5 |
|
|
XP_016855851.1 |
| XM_017000363.1 |
276 |
UTR 5 |
|
|
XP_016855852.1 |
| XM_017000364.1 |
276 |
Missense Mutation |
CTC,TTC |
L72F |
XP_016855853.1 |
| XM_017000365.1 |
276 |
UTR 5 |
|
|
XP_016855854.1 |
| XM_017000366.1 |
276 |
UTR 5 |
|
|
XP_016855855.1 |
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