Product Details

SNP ID
rs142217753
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:126211608 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTGGCCGTTTCCCCGGATCCAGG[G/T]GCCCGACGCGCTCCACCTGGGCGCC
Phenotype
MIM: 616587
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
FAM118B PubMed Links

Gene Details

Gene
FAM118B
Gene Name
family with sequence similarity 118 member B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024556.3 195 Intron NP_078832.1
XM_005271665.3 195 UTR 5 XP_005271722.1
XM_011542977.2 195 Intron XP_011541279.1
XM_011542978.2 195 UTR 5 XP_011541280.1
XM_017018285.1 195 Intron XP_016873774.1
XM_017018286.1 195 UTR 5 XP_016873775.1
Gene
RPUSD4
Gene Name
RNA pseudouridylate synthase domain containing 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001144827.1 195 Missense Mutation ACC,CCC T11P NP_001138299.1
NM_032795.2 195 Missense Mutation ACC,CCC T11P NP_116184.2
XM_011543039.2 195 UTR 5 XP_011541341.1

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