Product Details

SNP ID
rs200649816
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:45417649 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAAATCATGTGCATATTGGAAAAC[C/T]GGAAAAAGAGGGATAGGAAAAATCT
Phenotype
MIM: 608685
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RIBC2 PubMed Links

Gene Details

Gene
RIBC2
Gene Name
RIB43A domain with coiled-coils 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015653.4 280 Missense Mutation CGG,TGG R87W NP_056468.3
XM_005261524.4 280 Missense Mutation CGG,TGG R14W XP_005261581.1
XM_011530126.2 280 Intron XP_011528428.1
XM_017028766.1 280 Missense Mutation CGG,TGG R87W XP_016884255.1
Gene
SMC1B
Gene Name
structural maintenance of chromosomes 1B
There are no transcripts associated with this gene.

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