Product Details

SNP ID
rs200476957
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:38869298 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGCGTCCGCCTGCGGTGCCACTG[G/T]TGCAGGGAGGCGCGGGCCTCGGAGC
Phenotype
MIM: 604480
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
RINL PubMed Links

Gene Details

Gene
RINL
Gene Name
Ras and Rab interactor like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195833.1 1572 Missense Mutation CAA,CAC Q529H NP_001182762.1
NM_198445.3 1572 Intron NP_940847.1
XM_006723015.2 1572 Missense Mutation CAA,CAC Q529H XP_006723078.1
XM_006723016.2 1572 Missense Mutation CAA,CAC Q415H XP_006723079.1
XM_011526454.2 1572 Missense Mutation CAA,CAC Q529H XP_011524756.1
XM_011526455.2 1572 Missense Mutation CAA,CAC Q497H XP_011524757.1
Gene
SIRT2
Gene Name
sirtuin 2
There are no transcripts associated with this gene.

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