Product Details

SNP ID
rs143619190
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.20:50128184 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCCAGGGGTATAGCTGCTCCAGG[G/T]CTTCTGCAGGTTGGGGAGAGGGGGG
Phenotype
MIM: 610994
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
TMEM189 PubMed Links

Gene Details

Gene
TMEM189
Gene Name
transmembrane protein 189
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001162505.1 643 Missense Mutation NP_001155977.1
NM_199129.2 643 Missense Mutation NP_954580.1
Gene
TMEM189-UBE2V1
Gene Name
TMEM189-UBE2V1 readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_199203.2 643 Missense Mutation NP_954673.1

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