Product Details

SNP ID
rs74392217
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:87268576 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCGGGTGAAGATACCCGCGGCCC[C/T]GCCTGTGGCAGCCGCCCCCTATCCT
Phenotype
MIM: 139150
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RASA1 PubMed Links

Gene Details

Gene
RASA1
Gene Name
RAS p21 protein activator 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002890.2 776 Missense Mutation CCG,CTG P42L NP_002881.1
NM_022650.2 776 Intron NP_072179.1
XM_011543525.1 776 Missense Mutation CCG,CTG P42L XP_011541827.1
XM_011543527.2 776 Missense Mutation CCG,CTG P42L XP_011541829.1

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