Product Details

SNP ID
rs1141419
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:101011006 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTTAATCATCTGCTTCAGCTGTT[A/T]CTGATAATCAACTGCATCACCTTGA
Phenotype
Polymorphism
A/T, Transversion 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 3313 Intron NP_000984.1
NM_001098577.2 3313 Intron NP_001092047.1
NM_001099693.1 3313 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 3313 Nonsense Mutation AAA,TAA K987* XP_005263919.1
XM_005263863.4 3313 Missense Mutation AAA,TAA K980* XP_005263920.1
XM_005263864.3 3313 Nonsense Mutation AAA,TAA K972* XP_005263921.1
XM_011510507.1 3313 Nonsense Mutation AAA,TAA K959* XP_011508809.1
XM_011510508.2 3313 Intron XP_011508810.1
XM_017003198.1 3313 Nonsense Mutation AAA,TAA K952* XP_016858687.1
XM_017003199.1 3313 Missense Mutation AAA,TAA K937* XP_016858688.1
XM_017003200.1 3313 Intron XP_016858689.1
XM_017003201.1 3313 Intron XP_016858690.1
XM_017003202.1 3313 Intron XP_016858691.1

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