Product Details

SNP ID
rs147996566
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:92131126 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTTCTATGGATATTATTGATTCC[C/G]TGAGGAAGTAAGTTACATTTCATAA
Phenotype
MIM: 606028 MIM: 603837
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CPSF2 PubMed Links

Gene Details

Gene
CPSF2
Gene Name
cleavage and polyadenylation specific factor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001322270.1 410 Missense Mutation CTG,GTG L48V NP_001309199.1
NM_001322271.1 410 UTR 5 NP_001309200.1
NM_001322272.1 410 Missense Mutation CTG,GTG L48V NP_001309201.1
NM_017437.2 410 Missense Mutation CTG,GTG L48V NP_059133.1
Gene
NDUFB1
Gene Name
NADH:ubiquinone oxidoreductase subunit B1
There are no transcripts associated with this gene.

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