Product Details

SNP ID
rs1047061
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45940628 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGCCGACGCTGCGGCCGCGGCTGG[A/C]AGCACATCCGCGGGGCTGGCGTACG
Phenotype
MIM: 601991
Polymorphism
A/C, 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_002516.3 814 Silent Mutation CTG,CTT L238L NP_002507.1
XM_006723230.3 814 Silent Mutation CTG,CTT L129L XP_006723293.1
XM_017026838.1 814 Silent Mutation CTG,CTT L129L XP_016882327.1
XM_017026839.1 814 Silent Mutation CTG,CTT L129L XP_016882328.1
XM_017026840.1 814 Silent Mutation CTG,CTT L129L XP_016882329.1

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