Product Details

SNP ID
rs200501679
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:15423096 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGCCGCCGGCATCCGCTCTGCCT[C/G]GGAGCCAGGCAGCTGACTCCGACCG
Phenotype
MIM: 602348
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
SNAPC3 PubMed Links

Gene Details

Gene
SNAPC3
Gene Name
small nuclear RNA activating complex polypeptide 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039697.1 401 Missense Mutation CGG,GGG R73G NP_001034786.1
XM_017015056.1 401 Missense Mutation CGG,GGG R73G XP_016870545.1
XM_017015057.1 401 Missense Mutation CGG,GGG R73G XP_016870546.1

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