Product Details

SNP ID
rs201233557
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:14819894 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACAGCCACAGACTGCCCTGAAGTT[C/G]TTGAGGAGGGATGTGAAGAGGCCAC
Phenotype
MIM: 614788
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
FGD5 PubMed Links

Gene Details

Gene
FGD5
Gene Name
FYVE, RhoGEF and PH domain containing 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320276.1 933 Missense Mutation CTT,GTT L275V NP_001307205.1
NM_152536.3 933 Missense Mutation CTT,GTT L275V NP_689749.3
XM_011533422.1 933 Missense Mutation CTT,GTT L275V XP_011531724.1
XM_011533423.1 933 Missense Mutation CTT,GTT L275V XP_011531725.1
Gene
LOC152274
Gene Name
uncharacterized LOC152274
There are no transcripts associated with this gene.

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