Product Details

SNP ID
rs17510270
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:138635469 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATATCAAATGTACCTTTCAGTGGTT[G/T]AGGCAGAAAATGAGCTGCAGGCTTG
Phenotype
MIM: 300070
Polymorphism
G/T, 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 1089 Missense Mutation AAA,CAA K151Q NP_001132970.1
NM_001139500.1 1089 Missense Mutation AAA,CAA K207Q NP_001132972.1
NM_001139501.1 1089 Missense Mutation AAA,CAA K178Q NP_001132973.1
NM_001139502.1 1089 Missense Mutation AAA,CAA K178Q NP_001132974.1
NM_004114.3 1089 Missense Mutation AAA,CAA K197Q NP_004105.1
NM_033642.2 1089 Missense Mutation AAA,CAA K144Q NP_378668.1
XM_005262399.1 1089 Missense Mutation AAA,CAA K207Q XP_005262456.1

View Full Product Details