Product Details

SNP ID
rs148234005
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:43197043 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTCTTGTCCTTCTCGAAAGGACA[C/G]TCTACCTGTGTCCATGTCATGAACT
Phenotype
MIM: 614531
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
RASGEF1A PubMed Links

Gene Details

Gene
RASGEF1A
Gene Name
RasGEF domain family member 1A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282862.1 1362 Missense Mutation GAC,GAG D435E NP_001269791.1
NM_145313.3 1362 Missense Mutation GAC,GAG D427E NP_660356.2
XM_005271809.3 1362 Missense Mutation GAC,GAG D347E XP_005271866.1
XM_011539500.2 1362 Missense Mutation GAC,GAG D347E XP_011537802.1

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