Product Details

SNP ID
rs200148492
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:177089652 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGTCCTGCTGAGTGTGCCTGGGC[C/T]TCCAGTCTTGTCCCTGGAGGCCTCT
Phenotype
MIM: 134935 MIM: 605308
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FGFR4 PubMed Links

Gene Details

Gene
FGFR4
Gene Name
fibroblast growth factor receptor 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001291980.1 217 Missense Mutation CCT,CTT P17L NP_001278909.1
NM_002011.4 217 Missense Mutation CCT,CTT P17L NP_002002.3
NM_022963.3 217 Missense Mutation CCT,CTT P17L NP_075252.2
NM_213647.2 217 Missense Mutation CCT,CTT P17L NP_998812.1
XM_005265838.3 217 Missense Mutation CCT,CTT P17L XP_005265895.1
XM_011534464.2 217 Missense Mutation CCT,CTT P48L XP_011532766.1
XM_011534465.2 217 UTR 5 XP_011532767.1
Gene
ZNF346
Gene Name
zinc finger protein 346
There are no transcripts associated with this gene.

View Full Product Details