Product Details
- SNP ID
-
rs144531891
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.10:95610207 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CAGAGTCTTTCTTACCCAGTCCAAA[G/T]CGGTAACCATCAGAAAAGCGAGTGC
- Phenotype
-
MIM: 138250
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
ALDH18A1
PubMed Links
Gene Details
- Gene
- ALDH18A1
- Gene Name
- aldehyde dehydrogenase 18 family member A1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001017423.1 |
2458 |
Silent Mutation |
CGA,CGC |
R730R |
NP_001017423.1 |
NM_001323412.1 |
2458 |
Silent Mutation |
CGA,CGC |
R621R |
NP_001310341.1 |
NM_001323413.1 |
2458 |
Silent Mutation |
CGA,CGC |
R732R |
NP_001310342.1 |
NM_001323414.1 |
2458 |
Silent Mutation |
CGA,CGC |
R732R |
NP_001310343.1 |
NM_001323415.1 |
2458 |
Silent Mutation |
CGA,CGC |
R730R |
NP_001310344.1 |
NM_001323416.1 |
2458 |
Silent Mutation |
CGA,CGC |
R621R |
NP_001310345.1 |
NM_001323417.1 |
2458 |
Silent Mutation |
CGA,CGC |
R697R |
NP_001310346.1 |
NM_001323418.1 |
2458 |
Silent Mutation |
CGA,CGC |
R619R |
NP_001310347.1 |
NM_001323419.1 |
2458 |
Silent Mutation |
CGA,CGC |
R520R |
NP_001310348.1 |
NM_002860.3 |
2458 |
Silent Mutation |
CGA,CGC |
R732R |
NP_002851.2 |
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