Product Details

SNP ID
rs201599232
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:81433888 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGAGCAGATACTGCAAGATCTTCC[C/G]GTCCCTCTCAAATGGACACTCCACT
Phenotype
MIM: 614532
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
RASGEF1B PubMed Links

Gene Details

Gene
RASGEF1B
Gene Name
RasGEF domain family member 1B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001300735.1 1441 Missense Mutation CGG,GGG R425G NP_001287664.1
NM_001300736.1 1441 Missense Mutation CGG,GGG R384G NP_001287665.1
NM_152545.2 1441 Missense Mutation CGG,GGG R426G NP_689758.1
XM_017007812.1 1441 Missense Mutation CGG,GGG R385G XP_016863301.1
XM_017007813.1 1441 Missense Mutation CGG,GGG R426G XP_016863302.1

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