Product Details

SNP ID
rs144599692
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:32271884 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTTGTATGTACAAGTGCTGTTGGT[A/G]TAGTACTACTGAGGTGTAAGCCCTT
Phenotype
MIM: 610999
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
EPC1 PubMed Links

Gene Details

Gene
EPC1
Gene Name
enhancer of polycomb homolog 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001272004.1 2411 Missense Mutation ACA,ATA T680I NP_001258933.1
NM_001272019.2 2411 Missense Mutation ACA,ATA T609I NP_001258948.1
NM_001282391.1 2411 Missense Mutation ACA,ATA T630I NP_001269320.1
NM_025209.3 2411 Missense Mutation ACA,ATA T703I NP_079485.1
XM_006717510.1 2411 Missense Mutation ACA,ATA T653I XP_006717573.1

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