Product Details

SNP ID
rs113908581
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:55093073 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGGGACGCGGGGCCTTCGGGAAG[G/T]GTCCTGTCGGGAGGGGGAGGCGAGT
Phenotype
MIM: 614987 MIM: 613245
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
EPS8L1 PubMed Links

Gene Details

Gene
EPS8L1
Gene Name
EPS8 like 1
There are no transcripts associated with this gene.

Gene
PPP1R12C
Gene Name
protein phosphatase 1 regulatory subunit 12C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271618.1 1814 Missense Mutation ACT,CCT T589P NP_001258547.1
NM_017607.3 1814 Missense Mutation ACT,CCT T590P NP_060077.1
XM_005259013.3 1814 Missense Mutation ACT,CCT T590P XP_005259070.1
XM_011527045.2 1814 Missense Mutation ACT,CCT T589P XP_011525347.1

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