Product Details

SNP ID
rs191404242
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:98851481 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCTTGCTGATGATATTCTCGGCCC[A/G]GATGCTGAAGCAGTAGTCCCCAGGG
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
TMEM130 PubMed Links

Gene Details

Gene
TMEM130
Gene Name
transmembrane protein 130
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001134450.1 829 Missense Mutation CGG,TGG R316W NP_001127922.1
NM_001134451.1 829 Missense Mutation CGG,TGG R214W NP_001127923.1
NM_152913.2 829 Missense Mutation CGG,TGG R316W NP_690877.1

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