Product Details

SNP ID
rs138076455
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:1651776 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTATCTGGTGGGCTCACCCCATATA[A/G]GTATCCTGCAATCTGGAGACAAAGG
Phenotype
MIM: 607300 MIM: 607848 MIM: 607873
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
PRPF8 PubMed Links

Gene Details

Gene
PRPF8
Gene Name
pre-mRNA processing factor 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006445.3 6496 Silent Mutation CTA,TTA L2128L NP_006436.3
Gene
RILP
Gene Name
Rab interacting lysosomal protein
There are no transcripts associated with this gene.

Gene
SCARF1
Gene Name
scavenger receptor class F member 1
There are no transcripts associated with this gene.

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