Product Details

SNP ID
rs199775686
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:158123868 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTTGATTATATTTTATTTCAGAC[G/T]CAGGCATCGATCAAGCAGTAGCTCT
Phenotype
MIM: 613352
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
RSRC1 PubMed Links

Gene Details

Gene
RSRC1
Gene Name
arginine and serine rich coiled-coil 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271834.1 371 Missense Mutation CGC,CTC R66L NP_001258763.1
NM_001271838.1 371 Missense Mutation CGC,CTC R66L NP_001258767.1
NM_016625.3 371 Missense Mutation CGC,CTC R66L NP_057709.2

View Full Product Details