Product Details

SNP ID
rs201650418
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:1312063 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGCACCTTGGTGCCTGGGTCCTC[A/T]GAAGGGGCGGCGGCCTGGAGGAGGA
Phenotype
MIM: 611354
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
ACAP3 PubMed Links

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 1926 Silent Mutation TCA,TCT S570S NP_001243385.1
NM_001256460.1 1926 Silent Mutation TCA,TCT S535S NP_001243389.1
NM_001256462.1 1926 Silent Mutation TCA,TCT S466S NP_001243391.1
NM_001256463.1 1926 Silent Mutation TCA,TCT S463S NP_001243392.1
NM_017871.5 1926 Silent Mutation TCA,TCT S564S NP_060341.2
XM_011541647.1 1926 Silent Mutation TCA,TCT S624S XP_011539949.1
XM_011541648.1 1926 Silent Mutation TCA,TCT S586S XP_011539950.1
XM_011541650.1 1926 Silent Mutation TCA,TCT S440S XP_011539952.1
XM_017001557.1 1926 Silent Mutation TCA,TCT S440S XP_016857046.1
XM_017001558.1 1926 Silent Mutation TCA,TCT S440S 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 1926 Intron NP_699170.1
XM_005244720.3 1926 Intron XP_005244777.1

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