Product Details

SNP ID
rs147892061
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.20:17614778 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTGCAGCTTCTTCACCGTGTCCT[C/T]CTCCCTTGCCAGCTGCTCCTGGGTC
Phenotype
MIM: 609114 MIM: 601418
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
DSTN PubMed Links

Gene Details

Gene
DSTN
Gene Name
destrin, actin depolymerizing factor
There are no transcripts associated with this gene.

Gene
RRBP1
Gene Name
ribosome binding protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042576.1 3208 Missense Mutation AAG,GAG K952E NP_001036041.1
NM_004587.2 3208 Missense Mutation AAG,GAG K952E NP_004578.2

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