Product Details

SNP ID
rs667843
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45940518 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGCGCCGTGCTGATGGCCAGCAGG[A/T]CGGTGCCTGAGAAGGCGGGCAGCGC
Phenotype
MIM: 601991
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
NOVA2 PubMed Links

Gene Details

Gene
NOVA2
Gene Name
NOVA alternative splicing regulator 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002516.3 924 Missense Mutation GAC,GTC D275V NP_002507.1
XM_006723230.3 924 Missense Mutation GAC,GTC D166V XP_006723293.1
XM_017026838.1 924 Missense Mutation GAC,GTC D166V XP_016882327.1
XM_017026839.1 924 Missense Mutation GAC,GTC D166V XP_016882328.1
XM_017026840.1 924 Missense Mutation GAC,GTC D166V XP_016882329.1

View Full Product Details