Product Details

SNP ID
rs147600184
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:38782689 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGACCAGAGGGAAGGTCTGCAGTC[A/G]CTTATAATCAGCCTCATCTTTCTTC
Phenotype
MIM: 610565
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
DNAL4 PubMed Links
Additional Information
For this assay, SNP(s) [rs760482] 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
DNAL4
Gene Name
dynein axonemal light chain 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005740.2 271 Nonsense Mutation CGA,TGA R15* NP_005731.1

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