Product Details

SNP ID
rs200665559
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:38433869 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCGAAGACGAGGTCCAGTTCCTG[C/T]GGACGGTGCGTATCTCTGGGTTAGG
Phenotype
MIM: 607320 MIM: 180901
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RASGRP4 PubMed Links

Gene Details

Gene
RASGRP4
Gene Name
RAS guanyl releasing protein 4
There are no transcripts associated with this gene.

Gene
RYR1
Gene Name
ryanodine receptor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000540.2 120 Missense Mutation CGG,TGG R14W NP_000531.2
NM_001042723.1 120 Missense Mutation CGG,TGG R14W NP_001036188.1
XM_006723317.2 120 Missense Mutation CGG,TGG R14W XP_006723380.1
XM_006723319.2 120 Missense Mutation CGG,TGG R14W XP_006723382.1
XM_011527205.2 120 Missense Mutation CGG,TGG R14W XP_011525507.1

View Full Product Details