Product Details

SNP ID
rs200883284
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:87268821 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTCACCAAACTGCCCACTTCGTTG[C/T]TTGCTGAGACTCTCGGGCCAGGCGG
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 1021 Missense Mutation CTT,TTT L124F NP_002881.1
NM_022650.2 1021 Intron NP_072179.1
XM_011543525.1 1021 Missense Mutation CTT,TTT L124F XP_011541827.1
XM_011543527.2 1021 Missense Mutation CTT,TTT L124F XP_011541829.1

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