Product Details

SNP ID
rs138995094
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:37008884 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGAGGCTAGAGGACGTGCATCACC[G/T]CCCTGAGTGCAGGCCTCCCGAGTCC
Phenotype
MIM: 605091
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
FGD2 PubMed Links

Gene Details

Gene
FGD2
Gene Name
FYVE, RhoGEF and PH domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_173558.3 282 Missense Mutation CGC,CTC R40L NP_775829.2
XM_011514372.2 282 Missense Mutation CGC,CTC R40L XP_011512674.1
XM_011514373.2 282 Missense Mutation CGC,CTC R40L XP_011512675.1
XM_017010429.1 282 Missense Mutation CGC,CTC R40L XP_016865918.1

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