Product Details

SNP ID
rs186176135
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:138632946 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTCCCGCTTCCAGATCGGGAGAA[A/C]TCCGTGAGATCGTGCAGTGATGGCT
Phenotype
MIM: 300070
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
FGF13 PubMed Links

Gene Details

Gene
FGF13
Gene Name
fibroblast growth factor 13
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001139498.1 1142 Missense Mutation GAG,GAT E168D NP_001132970.1
NM_001139500.1 1142 Missense Mutation GAG,GAT E224D NP_001132972.1
NM_001139501.1 1142 Missense Mutation GAG,GAT E195D NP_001132973.1
NM_001139502.1 1142 Missense Mutation GAG,GAT E195D NP_001132974.1
NM_004114.3 1142 Missense Mutation GAG,GAT E214D NP_004105.1
NM_033642.2 1142 Missense Mutation GAG,GAT E161D NP_378668.1
XM_005262399.1 1142 Missense Mutation GAG,GAT E224D XP_005262456.1

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