Product Details

SNP ID
rs146478181
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:10874281 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTTCAGGAGCATAGTTACAGCTC[A/G]AAAGGCTCTTCACCTCTCGCACACT
Phenotype
MIM: 603716
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GCM2 PubMed Links

Gene Details

Gene
GCM2
Gene Name
glial cells missing homolog 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004752.3 1307 Missense Mutation TCG,TTG S412L NP_004743.1

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