Product Details

SNP ID
rs188353527
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:32271734 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAAGGTACAGTTAATCGAATGTTG[C/T]TCCCAATCAGAACCTGAGTTGTTGC
Phenotype
MIM: 610999
Polymorphism
C/T, 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 2561 Missense Mutation AAC,AGC N730S NP_001258933.1
NM_001272019.2 2561 Missense Mutation AAC,AGC N659S NP_001258948.1
NM_001282391.1 2561 Missense Mutation AAC,AGC N680S NP_001269320.1
NM_025209.3 2561 Missense Mutation AAC,AGC N753S NP_079485.1
XM_006717510.1 2561 Missense Mutation AAC,AGC N703S XP_006717573.1

View Full Product Details