Product Details

SNP ID
rs200073804
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:123485735 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCTCCTGCAGGGTGAACCGGGGG[C/T]GGTTGGGGTCCTTGAGATCCATGGC
Phenotype
MIM: 614092
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RILPL1 PubMed Links

Gene Details

Gene
RILPL1
Gene Name
Rab interacting lysosomal protein like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319243.1 455 Missense Mutation CAC,CGC H291R NP_001306172.1
NM_001319244.1 455 Missense Mutation CAC,CGC H140R NP_001306173.1
NM_001319302.1 455 Missense Mutation CAC,CGC H140R NP_001306231.1
NM_178314.4 455 Missense Mutation CAC,CGC H291R NP_847884.2
XM_006719372.2 455 Missense Mutation CAC,CGC H291R XP_006719435.1
XM_006719373.3 455 Missense Mutation CAC,CGC H140R XP_006719436.1
XM_011538282.2 455 Missense Mutation CAC,CGC H223R XP_011536584.1
XM_011538284.2 455 Missense Mutation CAC,CGC H137R XP_011536586.1
XM_011538285.2 455 Missense Mutation CAC,CGC H137R XP_011536587.1

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