Product Details

SNP ID
rs147863226
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:94663740 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGATGAGGATGATGACATCGAGCTC[C/T]GCGGTGCTGCAGCAGCTGCTGCCCC
Phenotype
MIM: 609810 MIM: 604149
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PEG10 PubMed Links

Gene Details

Gene
PEG10
Gene Name
paternally expressed 10
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040152.1 663 Missense Mutation CGC,TGC R62C NP_001035242.1
NM_001172437.2 663 Missense Mutation CGC,TGC R138C NP_001165908.1
NM_001172438.2 663 Missense Mutation CGC,TGC R138C NP_001165909.1
NM_001184961.1 663 Missense Mutation CGC,TGC R96C NP_001171890.1
NM_001184962.1 663 Missense Mutation CGC,TGC R96C NP_001171891.1
NM_015068.3 663 Missense Mutation CGC,TGC R62C NP_055883.2
Gene
SGCE
Gene Name
sarcoglycan epsilon
There are no transcripts associated with this gene.

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