Product Details

SNP ID
rs201706496
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:226549094 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATCTGCCTCTTCCTCAACACTTTC[C/G]TGCCGGGACTGGGTAAGACACGGCT
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
STUM PubMed Links

Gene Details

Gene
STUM
Gene Name
stum, mechanosensory transduction mediator homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001003665.3 295 Missense Mutation CTG,GTG L64V NP_001003665.1
XM_011544183.2 295 Missense Mutation CTG,GTG L64V XP_011542485.1

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