Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs1966265

Hard Link
rs1966265 is a snp on gene FGFR4 (fibroblast growth factor receptor 4)

GeneFGFR4 Chromosome number Chromosome position
Alleles (transliterated to +) Minor Allele Minor Allele Frequency
Notation 7711G>A, Val10Ile Clinical significance Orientation (dbSNP) - (negative/reverse strand)
SNP Function
Missense variant.
Gene Function
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. The genomic organization of this gene, compared to members 1-3, encompasses 18 exons rather than 19 or 20. Although alternative splicing has been observed, there is no evidence that the C-terminal half of the IgIII domain of this protein varies between three alternate forms, as indicated for members 1-3. This particular family member preferentially binds acidic fibroblast growth factor and, although its specific function is unknown, it is overexpressed in gynecological tumor samples, suggesting a role in breast and ovarian tumorigenesis. [provided by RefSeq, Jul 2008]
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

NOT REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




DSL/ Opus Chip

NOT REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





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