Product Details

SNP ID
rs3206671
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:75400815 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAACCAGGACAGAAATCATTATCT[A/T]AGCCACCAGGTAAAACTCATTTGAC
Phenotype
MIM: 600454 MIM: 600455
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
RPS3 PubMed Links

Gene Details

Gene
RPS3
Gene Name
ribosomal protein S3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001005.4 209 Nonsense Mutation TAA,TTA *51L NP_000996.2
NM_001256802.1 209 Nonsense Mutation TAA,TTA *51L NP_001243731.1
NM_001260506.1 209 Nonsense Mutation TAA,TTA *51L NP_001247435.1
NM_001260507.1 209 Intron NP_001247436.1
Gene
SNORD15A
Gene Name
small nucleolar RNA, C/D box 15A
There are no transcripts associated with this gene.

Gene
SNORD15B
Gene Name
small nucleolar RNA, C/D box 15B
There are no transcripts associated with this gene.

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