Product Details

SNP ID
rs139559450
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:73173306 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAATGTGTTCTCCGTCACTCCTTA[C/G]ACACCCAGCACCGCTGACATCCAGG
Phenotype
MIM: 614909
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
TMEM174 PubMed Links

Gene Details

Gene
TMEM174
Gene Name
transmembrane protein 174
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_153217.2 111 Nonsense Mutation TAC,TAG Y21* NP_694949.1

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