Product Details

SNP ID

rs116865999

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:17615954 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCAAACTCGGCCGTGAGCTTCTGC[C/T]GCTGTGTCTGCTCATCCTCCAGGAT

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	2978	Missense Mutation	CAG,CGG	Q875R	NP_001036041.1
NM_004587.2	2978	Missense Mutation	CAG,CGG	Q875R	NP_004578.2

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