Product Details

SNP ID
rs138513585
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:83164267 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCCCTAGCATCTCCACTCCTCCA[A/G]TTGTTCCTGATATACAAAAGAATCT
Phenotype
MIM: 608876
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PCF11 PubMed Links

Gene Details

Gene
PCF11
Gene Name
PCF11 cleavage and polyadenylation factor subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015885.3 913 Missense Mutation ATT,GTT I190V NP_056969.2
XM_005274048.1 913 Missense Mutation ATT,GTT I190V XP_005274105.1
XM_005274049.1 913 Missense Mutation ATT,GTT I190V XP_005274106.1
XM_017017918.1 913 Missense Mutation ATT,GTT I190V XP_016873407.1

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