Product Details

SNP ID
rs147385605
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:9476018 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCAGCAGGGTGGATGGGGAGCAT[C/T]GCTGGCTGACAGGCTGGTCAGGTGA
Phenotype
MIM: 606029
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CPSF3 PubMed Links

Gene Details

Gene
CPSF3
Gene Name
cleavage and polyadenylation specific factor 3
There are no transcripts associated with this gene.

Gene
IAH1
Gene Name
isoamyl acetate-hydrolyzing esterase 1 homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039613.2 251 Missense Mutation TCG,TTG S38L NP_001034702.1
NM_001320858.1 251 Missense Mutation TCG,TTG S13L NP_001307787.1
NM_001320859.1 251 Intron NP_001307788.1
NM_001320860.1 251 Intron NP_001307789.1
NM_001320863.1 251 UTR 5 NP_001307792.1
XM_017003878.1 251 Intron XP_016859367.1

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