Product Details
- SNP ID
-
rs145965641
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:51977895 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GACTGTGGTACAGACCTCCATGAGC[C/T]GGTCCCAGGTAGCCCTGCTGGGCCT
- Phenotype
-
MIM: 104620
- Polymorphism
- C/T, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
ABHD14A
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs17849626] are located under a probe and SNP(s) [rs411209] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Gene Details
- Gene
- ABHD14A
- Gene Name
- abhydrolase domain containing 14A
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_015407.4 |
204 |
Missense Mutation |
CGG,TGG |
R32W |
NP_056222.2 |
- Gene
- ABHD14A-ACY1
- Gene Name
- ABHD14A-ACY1 readthrough
- Gene
- ABHD14B
- Gene Name
- abhydrolase domain containing 14B
There are no transcripts associated with this gene.
- Gene
- ACY1
- Gene Name
- aminoacylase 1
There are no transcripts associated with this gene.
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