Product Details

SNP ID
rs115740830
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:96253464 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCTTTGACACTTGTTTTTGGGAC[A/T]GTCCGCTCTCAGCAGCTCTCCAAGG
Phenotype
MIM: 613403
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
TMEM127 PubMed Links

Gene Details

Gene
TMEM127
Gene Name
transmembrane protein 127
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193304.2 963 UTR 3 NP_001180233.1
NM_017849.3 963 UTR 3 NP_060319.1
XM_017004450.1 963 Missense Mutation CAG,CTG Q48L XP_016859939.1
XM_017004451.1 963 UTR 3 XP_016859940.1
XM_017004452.1 963 UTR 3 XP_016859941.1

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