Product Details

SNP ID
rs148316804
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:38033967 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCACCATGTCCTCCTTCTCTGAGT[C/T]GGCGCTGGAGAAGAAGCTCTCGGAG
Phenotype
MIM: 614694 MIM: 614425
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RPRD1B PubMed Links

Gene Details

Gene
RPRD1B
Gene Name
regulation of nuclear pre-mRNA domain containing 1B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021215.3 506 Missense Mutation TCG,TTG S7L NP_067038.1
XM_005260477.3 506 Missense Mutation TCG,TTG S7L XP_005260534.1
XM_005260480.4 506 UTR 5 XP_005260537.1
XM_011528954.2 506 Missense Mutation TCG,TTG S7L XP_011527256.1
XM_017027990.1 506 Missense Mutation TCG,TTG S7L XP_016883479.1
XM_017027991.1 506 UTR 5 XP_016883480.1
Gene
TTI1
Gene Name
TELO2 interacting protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303457.1 506 Intron NP_001290386.1
NM_014657.2 506 Intron NP_055472.1
XM_011529114.1 506 Intron XP_011527416.1
XM_017028148.1 506 Intron XP_016883637.1

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