Product Details

SNP ID
rs200610645
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:94663718 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCAAGTGGAACCCACCCCTGAGGA[A/T]GAGGATGATGACATCGAGCTCCGCG
Phenotype
MIM: 609810 MIM: 604149
Polymorphism
A/T, Transversion 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_001040152.1 641 Missense Mutation GAA,GAT E54D NP_001035242.1
NM_001172437.2 641 Missense Mutation GAA,GAT E130D NP_001165908.1
NM_001172438.2 641 Missense Mutation GAA,GAT E130D NP_001165909.1
NM_001184961.1 641 Missense Mutation GAA,GAT E88D NP_001171890.1
NM_001184962.1 641 Missense Mutation GAA,GAT E88D NP_001171891.1
NM_015068.3 641 Missense Mutation GAA,GAT E54D NP_055883.2
Gene
SGCE
Gene Name
sarcoglycan epsilon
There are no transcripts associated with this gene.

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