Product Details
- SNP ID
-
rs202049268
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:2206581 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TACGACGGCGTCAACAAGAACATCG[C/T]GTCTGTGGGCTTCCACGAAGACGGC
- Phenotype
-
MIM: 612190
MIM: 172280
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
BRICD5
PubMed Links
Gene Details
- Gene
- BRICD5
- Gene Name
- BRICHOS domain containing 5
There are no transcripts associated with this gene.
- Gene
- MLST8
- Gene Name
- MTOR associated protein, LST8 homolog
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001199173.1 |
622 |
Missense Mutation |
GCG,GTG |
A89V |
NP_001186102.1 |
| NM_001199174.1 |
622 |
Missense Mutation |
GCG,GTG |
A89V |
NP_001186103.1 |
| NM_001199175.1 |
622 |
Missense Mutation |
GCG,GTG |
A88V |
NP_001186104.1 |
| NM_022372.4 |
622 |
Missense Mutation |
GCG,GTG |
A89V |
NP_071767.3 |
| XM_005255475.3 |
622 |
Missense Mutation |
GCG,GTG |
A114V |
XP_005255532.2 |
| XM_005255478.2 |
622 |
Missense Mutation |
GCG,GTG |
A95V |
XP_005255535.1 |
| XM_005255479.2 |
622 |
Missense Mutation |
GCG,GTG |
A95V |
XP_005255536.1 |
| XM_017023548.1 |
622 |
Missense Mutation |
GCG,GTG |
A23V |
XP_016879037.1 |
| XM_017023549.1 |
622 |
Missense Mutation |
GCG,GTG |
A23V |
XP_016879038.1 |
| XM_017023550.1 |
622 |
Missense Mutation |
GCG,GTG |
A160V |
XP_016879039.1 |
| XM_017023551.1 |
622 |
UTR 5 |
|
|
XP_016879040.1 |
| XM_017023552.1 |
622 |
Missense Mutation |
GCG,GTG |
A166V |
XP_016879041.1 |
- Gene
- PGP
- Gene Name
- phosphoglycolate phosphatase
There are no transcripts associated with this gene.
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