Product Details

SNP ID
rs2126220
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:81490996 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
ATTCAGATTCTCTCCATGGCATGCA[A/C]AGCCCTGACTCGCTCCTCCCTGCCT
Phenotype
MIM: 607839
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
GBE1 PubMed Links

Gene Details

Gene
GBE1
Gene Name
glucan (1,4-alpha-), branching enzyme 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000158.3 Intron NP_000149.3

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