Product Details

SNP ID

rs111523318

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:55093014 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGACCTCCCCGAGAGCAGACCTC[A/C]CCTCTCTGGGCAGGGCTGTCAGAGT

Phenotype

MIM: 614987 MIM: 613245

Polymorphism

A/C, 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		Intron			NP_001258547.1
NM_017607.3		Intron			NP_060077.1
XM_005259013.3		Intron			XP_005259070.1
XM_011527045.2		Intron			XP_011525347.1

View Full Product Details