Product Details
- SNP ID
-
rs200030385
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.9:108855014 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCCCGGCTGGGTGCTGCCTGCCAGG[C/G]AGGGCTGGAAGAGCATCTCAGAGCA
- Phenotype
-
MIM: 604303
MIM: 604304
- Polymorphism
- C/G, Transversion Substitution
- Allele Nomenclature
-
- Literature Links
-
ACTL7A
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs3750467] 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
- ACTL7A
- Gene Name
- actin like 7A
There are no transcripts associated with this gene.
- Gene
- ACTL7B
- Gene Name
- actin like 7B
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_006686.3 |
982 |
Missense Mutation |
TCC,TGC |
S306C |
NP_006677.1 |
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