Product Details

SNP ID
rs200849345
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:73173539 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCAAGTTCAAAATGCTCTCCTGCC[A/T]GTTGTGCAAAGAAAGTGAGGAAAGG
Phenotype
MIM: 614909
Polymorphism
A/T, 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_153217.2 344 Missense Mutation CAG,CTG Q99L NP_694949.1

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