Product Details

SNP ID
rs192276195
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:32526899 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGTTCTGCATGAACATCTAAGACA[A/G]GCTTCTGGCCTACATTGAAGAAAAA
Phenotype
MIM: 615890
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DYNC1LI1 PubMed Links

Gene Details

Gene
DYNC1LI1
Gene Name
dynein cytoplasmic 1 light intermediate chain 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016141.3 1576 Missense Mutation CCT,CTT P491L NP_057225.2

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