Product Details

SNP ID
rs181931446
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:94664013 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACAACTACCCAGCTTTCATGATG[A/G]AAATGAAGCATGTCTTTGAAGACCC
Phenotype
MIM: 609810 MIM: 604149
Polymorphism
A/G, 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_001040152.1 936 Missense Mutation AAA,GAA K153E NP_001035242.1
NM_001172437.2 936 Missense Mutation AAA,GAA K229E NP_001165908.1
NM_001172438.2 936 Missense Mutation AAA,GAA K229E NP_001165909.1
NM_001184961.1 936 Missense Mutation AAA,GAA K187E NP_001171890.1
NM_001184962.1 936 Missense Mutation AAA,GAA K187E NP_001171891.1
NM_015068.3 936 Missense Mutation AAA,GAA K153E NP_055883.2
Gene
SGCE
Gene Name
sarcoglycan epsilon
There are no transcripts associated with this gene.

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