Product Details

SNP ID
rs112919287
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:1815739 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCGGCCAGGCTGGTGAGCTTGCT[G/T]TCGGGAATGTGCTTGACTTGCTTCA
Phenotype
MIM: 134934 MIM: 604407
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
FGFR3 PubMed Links

Gene Details

Gene
FGFR3
Gene Name
fibroblast growth factor receptor 3
There are no transcripts associated with this gene.

Gene
LETM1
Gene Name
leucine zipper and EF-hand containing transmembrane protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012318.2 1997 Missense Mutation GAA,GAC E665D NP_036450.1
XM_006713884.1 1997 Missense Mutation GAA,GAC E664D XP_006713947.1
XM_017008187.1 1997 Intron XP_016863676.1

View Full Product Details