Product Details

SNP ID
rs12011120
Assay Type
Validated
NCBI dbSNP Submissions
NA
Location
Chr.X:54449716 on Build GRCh38
Set Membership
HapMap Validated
Context Sequence [VIC/FAM]
TGTTTGTTGAGTTCAACAGTTTGAA[G/A]GTCTCCAGCGTCTGTTCATGCTTCA
Phenotype
MIM: 300546 MIM: 300945
Polymorphism
G/A, Transition Substitution
Allele Nomenclature
Literature Links
FGD1 PubMed Links

Gene Details

Gene
FGD1
Gene Name
FYVE, RhoGEF and PH domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004463.2 2825 Silent Mutation ACC,ACT T697T NP_004454.2
Gene
TSR2
Gene Name
TSR2, ribosome maturation factor
There are no transcripts associated with this gene.

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