Product Details

SNP ID
rs201545502
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:123465776 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTCCCGCTATGGTGACATCCGGC[A/G]GCTTCGGCTGGTCAGGGACTTGGTC
Phenotype
MIM: 614092
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
RILPL1 PubMed Links

Gene Details

Gene
RILPL1
Gene Name
Rab interacting lysosomal protein like 1
There are no transcripts associated with this gene.

Gene
SNRNP35
Gene Name
small nuclear ribonucleoprotein U11/U12 subunit 35
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022717.3 1535 Missense Mutation CAG,CGG Q79R NP_073208.1
NM_180699.3 1535 Missense Mutation CAG,CGG Q84R NP_851030.1
XM_006719204.3 1535 Missense Mutation CAG,CGG Q79R XP_006719267.1
XM_011537780.2 1535 Missense Mutation CAG,CGG Q140R XP_011536082.1
XM_017018724.1 1535 Missense Mutation CAG,CGG Q84R XP_016874213.1

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