Product Details

SNP ID
rs199848240
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:643411 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCGGCCTCACCCCCGCCCGCAGC[A/G]ACTCTACACCGTGGACTGCAGGTTC
Phenotype
MIM: 605831 MIM: 601778 MIM: 615177
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
FGF22 PubMed Links

Gene Details

Gene
FGF22
Gene Name
fibroblast growth factor 22
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001300812.1 320 Intron NP_001287741.1
NM_020637.1 320 Missense Mutation CAA,CGA Q107R NP_065688.1
Gene
POLRMT
Gene Name
RNA polymerase mitochondrial
There are no transcripts associated with this gene.

Gene
RNF126
Gene Name
ring finger protein 126
There are no transcripts associated with this gene.

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