Product Details

SNP ID
rs104895171
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:3243241 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGAAGATAGGTTGAAGGGGCCCA[G/C]AGAAAGAGCAGCTGGCGAATGTATA
Phenotype
MIM: 608107 MIM: 603231
Polymorphism
G/C, Transversion substitution
Allele Nomenclature
Literature Links
MEFV PubMed Links

Gene Details

Gene
MEFV
Gene Name
Mediterranean fever
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000243.2 2424 Missense Mutation TCT,TGT S749C NP_000234.1
NM_001198536.1 2424 UTR 3 NP_001185465.1
XM_017023236.1 2424 Missense Mutation TCT,TGT S748C XP_016878725.1
Gene
ZNF200
Gene Name
zinc finger protein 200
There are no transcripts associated with this gene.

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