Product Details

SNP ID
rs201709088
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:113298058 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGGCTGGAGTCACAAGGCTGAGGT[A/G]GGCCAGACATTCCACGCAGAAGGAG
Phenotype
MIM: 607795
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PRPF4 PubMed Links

Gene Details

Gene
PRPF4
Gene Name
pre-mRNA processing factor 4
There are no transcripts associated with this gene.

Gene
RNF183
Gene Name
ring finger protein 183
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_145051.3 1838 Missense Mutation CAC,TAC H43Y NP_659488.2
XM_006716952.2 1838 Missense Mutation CAC,TAC H43Y XP_006717015.1
XM_011518218.1 1838 Missense Mutation CAC,TAC H43Y XP_011516520.1
XM_011518219.1 1838 Missense Mutation CAC,TAC H43Y XP_011516521.1
XM_011518220.1 1838 Missense Mutation CAC,TAC H43Y XP_011516522.1
XM_017014268.1 1838 Missense Mutation CAC,TAC H43Y XP_016869757.1

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