Product Details

SNP ID
rs201074480
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:1647911 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCTGCTTCCGGACAGCCACCTTCA[C/T]GGCCTCGAGCAGAAGGCCGGGGACC
Phenotype
MIM: 607300 MIM: 607848 MIM: 607873
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PRPF8 PubMed Links

Gene Details

Gene
PRPF8
Gene Name
pre-mRNA processing factor 8
There are no transcripts associated with this gene.

Gene
RILP
Gene Name
Rab interacting lysosomal protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_031430.2 1162 Missense Mutation ATG,GTG M290V NP_113618.2
XM_005256811.1 1162 Missense Mutation ATG,GTG M290V XP_005256868.1
XM_017025195.1 1162 Missense Mutation CAT,CGT H241R XP_016880684.1
Gene
SCARF1
Gene Name
scavenger receptor class F member 1
There are no transcripts associated with this gene.

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