Product Details

SNP ID
rs201142834
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:177090441 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCAAGAGCAGGAGCTGACAGTAG[C/T]CCTTGGGCAGCCTGTGCGTCTGTGC
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_001291980.1 310 Missense Mutation GCC,GTC A48V NP_001278909.1
NM_002011.4 310 Missense Mutation GCC,GTC A48V NP_002002.3
NM_022963.3 310 Missense Mutation GCC,GTC A48V NP_075252.2
NM_213647.2 310 Missense Mutation GCC,GTC A48V NP_998812.1
XM_005265838.3 310 Missense Mutation GCC,GTC A48V XP_005265895.1
XM_011534464.2 310 Missense Mutation GCC,GTC A79V XP_011532766.1
XM_011534465.2 310 UTR 5 XP_011532767.1
Gene
ZNF346
Gene Name
zinc finger protein 346
There are no transcripts associated with this gene.

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