Product Details

SNP ID
rs201893005
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:101008146 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGCAGCTTCCAGAGCTGCTGCCT[C/T]GCTGCCCCACCTCCCCGATCTGCAG
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RPL31 PubMed Links

Gene Details

Gene
RPL31
Gene Name
ribosomal protein L31
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000993.4 3518 Intron NP_000984.1
NM_001098577.2 3518 Intron NP_001092047.1
NM_001099693.1 3518 Intron NP_001093163.1
Gene
TBC1D8
Gene Name
TBC1 domain family member 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_005263862.3 3518 Missense Mutation CAA,CGA Q1055R XP_005263919.1
XM_005263863.4 3518 Missense Mutation CAA,CGA Q1048R XP_005263920.1
XM_005263864.3 3518 Missense Mutation CAA,CGA Q1040R XP_005263921.1
XM_011510507.1 3518 Missense Mutation CAA,CGA Q1027R XP_011508809.1
XM_011510508.2 3518 Intron XP_011508810.1
XM_017003198.1 3518 Missense Mutation CAA,CGA Q1020R XP_016858687.1
XM_017003199.1 3518 Missense Mutation CAA,CGA Q1005R XP_016858688.1
XM_017003200.1 3518 Intron XP_016858689.1
XM_017003201.1 3518 Intron XP_016858690.1
XM_017003202.1 3518 Intron XP_016858691.1

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