Product Details
- SNP ID
-
rs199611703
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:73385902 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CGAGGATCTGCCATGGCCGGGCGAG[C/G]TGGAGGAGGAGGAGGAGGAGGAGGA
- Phenotype
-
MIM: 606844
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
ALMS1
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs72319667] 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
- ALMS1
- Gene Name
- ALMS1, centrosome and basal body associated protein
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_015120.4 |
145 |
Missense Mutation |
CTG,GTG |
L12V |
NP_055935.4 |
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