Product Details
- SNP ID
-
rs200447629
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.4:56338551 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGCAATTGTCCACTCTGAGATTCCA[A/G]GATCCACACTTTCCCATCAGTAGAT
- Phenotype
-
MIM: 614365
- Polymorphism
- A/G, Transition 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 |
3113 |
Silent Mutation |
CTG,TTG |
L950L |
NP_001273597.1 |
| NM_001286669.1 |
3113 |
Silent Mutation |
CTG,TTG |
L897L |
NP_001273598.1 |
| NM_001286670.1 |
3113 |
Silent Mutation |
CTG,TTG |
L565L |
NP_001273599.1 |
| NM_001286671.1 |
3113 |
UTR 3 |
|
|
NP_001273600.1 |
| NM_001286672.1 |
3113 |
Intron |
|
|
NP_001273601.1 |
| NM_001323890.1 |
3113 |
Silent Mutation |
CTG,TTG |
L1089L |
NP_001310819.1 |
| NM_001323892.1 |
3113 |
UTR 3 |
|
|
NP_001310821.1 |
| NM_001323893.1 |
3113 |
UTR 3 |
|
|
NP_001310822.1 |
| NM_001323899.1 |
3113 |
Silent Mutation |
CTG,TTG |
L673L |
NP_001310828.1 |
| NM_181806.3 |
3113 |
Silent Mutation |
CTG,TTG |
L1050L |
NP_861522.2 |
| XM_017007740.1 |
3113 |
Silent Mutation |
CTG,TTG |
L1006L |
XP_016863229.1 |
| XM_017007741.1 |
3113 |
Silent Mutation |
CTG,TTG |
L897L |
XP_016863230.1 |
| XM_017007742.1 |
3113 |
Silent Mutation |
CTG,TTG |
L897L |
XP_016863231.1 |
| XM_017007743.1 |
3113 |
UTR 3 |
|
|
XP_016863232.1 |
| XM_017007744.1 |
3113 |
Silent Mutation |
CTG,TTG |
L628L |
XP_016863233.1 |
- Gene
- KIAA1211
- Gene Name
- KIAA1211
There are no transcripts associated with this gene.
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