Product Details
- SNP ID
-
rs112962387
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.4:56338492 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCATTGATTCCAGGACCACAGGAGA[A/C]GAGAAGACTTCTCCAGGAAGTTCAT
- Phenotype
-
MIM: 614365
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
AASDH
PubMed Links
Gene Details
- Gene
- AASDH
- Gene Name
- aminoadipate-semialdehyde dehydrogenase
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001286668.1 |
3172 |
Silent Mutation |
TCG,TCT |
S969S |
NP_001273597.1 |
| NM_001286669.1 |
3172 |
Silent Mutation |
TCG,TCT |
S916S |
NP_001273598.1 |
| NM_001286670.1 |
3172 |
Silent Mutation |
TCG,TCT |
S584S |
NP_001273599.1 |
| NM_001286671.1 |
3172 |
UTR 3 |
|
|
NP_001273600.1 |
| NM_001286672.1 |
3172 |
Intron |
|
|
NP_001273601.1 |
| NM_001323890.1 |
3172 |
Silent Mutation |
TCG,TCT |
S1108S |
NP_001310819.1 |
| NM_001323892.1 |
3172 |
UTR 3 |
|
|
NP_001310821.1 |
| NM_001323893.1 |
3172 |
UTR 3 |
|
|
NP_001310822.1 |
| NM_001323899.1 |
3172 |
Silent Mutation |
TCG,TCT |
S692S |
NP_001310828.1 |
| NM_181806.3 |
3172 |
Silent Mutation |
TCG,TCT |
S1069S |
NP_861522.2 |
| XM_017007740.1 |
3172 |
Silent Mutation |
TCG,TCT |
S1025S |
XP_016863229.1 |
| XM_017007741.1 |
3172 |
Silent Mutation |
TCG,TCT |
S916S |
XP_016863230.1 |
| XM_017007742.1 |
3172 |
Silent Mutation |
TCG,TCT |
S916S |
XP_016863231.1 |
| XM_017007743.1 |
3172 |
UTR 3 |
|
|
XP_016863232.1 |
| XM_017007744.1 |
3172 |
Silent Mutation |
TCG,TCT |
S647S |
XP_016863233.1 |
- Gene
- KIAA1211
- Gene Name
- KIAA1211
There are no transcripts associated with this gene.
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