Product Details
- SNP ID
-
rs41453449
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:61965381 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATCTTTTGTTCACCTTGATATCCTG[A/C]AGGAAGATTCGGCCACCTCGTTGGT
- Phenotype
-
MIM: 607854
MIM: 134770
- Polymorphism
- A/C, Transversion Substitution
- Allele Nomenclature
-
- Literature Links
-
BEST1
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs60517521] 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
- BEST1
- Gene Name
- bestrophin 1
- Gene
- FTH1
- Gene Name
- ferritin heavy chain 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_002032.2 |
484 |
Silent Mutation |
CTG,CTT |
L83L |
NP_002023.2 |
- Gene
- LOC399900
- Gene Name
- uncharacterized LOC399900
There are no transcripts associated with this gene.
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