Product Details
- SNP ID
-
rs199706644
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.10:73632063 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTTGGAGAGGTTTTGGTTGTAGAGG[A/G]CCAGGGGTTCACTCAGCAAGGGCCC
- Phenotype
-
MIM: 605603
- Polymorphism
- A/G, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
MYOZ1
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs41280400] are located under a probe 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
- MYOZ1
- Gene Name
- myozenin 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_021245.3 |
1132 |
Missense Mutation |
GCC,GTC |
A256V |
NP_067068.1 |
- Gene
- USP54
- Gene Name
- ubiquitin specific peptidase 54
There are no transcripts associated with this gene.
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