Product Details

SNP ID
rs181743300
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:190429693 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATAGGTCAGGGGTTTGAGTTTGAA[G/T]GTGAATTCCAACAGTTGGACTCACA
Phenotype
MIM: 614786
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
TMEM207 PubMed Links

Gene Details

Gene
TMEM207
Gene Name
transmembrane protein 207
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_207316.2 410 Missense Mutation ATT,CTT I115L NP_997199.1

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