Product Details

SNP ID
rs201644143
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:83165679 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCATCCAAATTACATGTTTCACAGA[C/T]TCCCCCTATGGCAGTTAAAGCTCCT
Phenotype
MIM: 608876
Polymorphism
C/T, 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 1127 Missense Mutation ACT,ATT T261I NP_056969.2
XM_005274048.1 1127 Missense Mutation ACT,ATT T261I XP_005274105.1
XM_005274049.1 1127 Missense Mutation ACT,ATT T261I XP_005274106.1
XM_017017918.1 1127 Missense Mutation ACT,ATT T261I XP_016873407.1

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