Product Details
- SNP ID
-
rs147003113
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.5:57481761 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCTGGGTGCCAGGGTTATGATTTCT[G/T]TCTGCATCCTGTCAGCAATGCCTGG
- Phenotype
-
MIM: 614835
- Polymorphism
- G/T, Transversion Substitution
- Allele Nomenclature
-
- Literature Links
-
ACTBL2
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs16886992] 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
- ACTBL2
- Gene Name
- actin, beta like 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001017992.3 |
1049 |
Missense Mutation |
AAA,ACA |
K316T |
NP_001017992.1 |
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