Product Details

SNP ID
rs139676674
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:38985934 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGAGTTTAGGGATATGTTGAGAAG[C/T]GCTTTGTCGTGGAGGAACAGGCGGC
Phenotype
MIM: 182530
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SOS1 PubMed Links

Gene Details

Gene
SOS1
Gene Name
SOS Ras/Rac guanine nucleotide exchange factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005633.3 4101 Missense Mutation ACT,GCT T1298A NP_005624.2
XM_005264515.4 4101 Missense Mutation ACT,GCT T1283A XP_005264572.1
XM_011533062.2 4101 Missense Mutation ACT,GCT T1291A XP_011531364.1
XM_011533064.2 4101 Missense Mutation ACT,GCT T1241A XP_011531366.1
XM_011533066.2 4101 Missense Mutation ACT,GCT T943A XP_011531368.1

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