Product Details

SNP ID
rs79155839
Assay Type
Functionally Tested
NCBI dbSNP Submissions
17
Location
Chr.1:1310638 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACAGGTACGTATTTTTCCAGGAAG[C/G]TGCGGTTCTGGAACCTGGAGTTTGA
Phenotype
MIM: 611354
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
ACAP3 PubMed Links
Additional Information
For this assay, SNP(s) [rs2296474] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
ACAP3
Gene Name
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
There are no transcripts associated with this gene.

Gene
CPSF3L
Gene Name
cleavage and polyadenylation specific factor 3-like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256456.1 679 Intron NP_001243385.1
NM_001256460.1 679 Intron NP_001243389.1
NM_001256462.1 679 Intron NP_001243391.1
NM_001256463.1 679 Intron NP_001243392.1
NM_017871.5 679 Intron NP_060341.2
XM_011541647.1 679 Intron XP_011539949.1
XM_011541648.1 679 Intron XP_011539950.1
XM_011541650.1 679 Intron XP_011539952.1
XM_017001557.1 679 Intron XP_016857046.1
XM_017001558.1 679 Intron XP_016857047.1
Gene
MIR6727
Gene Name
microRNA 6727
There are no transcripts associated with this gene.

Gene
PUSL1
Gene Name
pseudouridylate synthase-like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_153339.1 679 Missense Mutation CTG,GTG L217V NP_699170.1
XM_005244720.3 679 Missense Mutation AGC,AGG S208R XP_005244777.1

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