Product Details
- SNP ID
-
rs1057206
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:26122377 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGCAGCGGGAACGGGGCGGCAGCCG[A/C]CGCCGGGTACAGATACTTCTCCAGG
- Phenotype
-
MIM: 606200
MIM: 601599
- Polymorphism
- A/C, Transversion Substitution
- Allele Nomenclature
-
- Literature Links
-
BHLHE41
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs140063083] 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
- BHLHE41
- Gene Name
- basic helix-loop-helix family member e41
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_030762.2 |
1429 |
Missense Mutation |
GCG,TCG |
A380S |
NP_110389.1 |
- Gene
- SSPN
- Gene Name
- sarcospan
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