Product Details

SNP ID
rs2301062
Assay Type
Functionally Tested
NCBI dbSNP Submissions
29
Location
Chr.1:63600273 on Build GRCh38
Set Membership
JSNP
Context Sequence [VIC/FAM]
GCTTCACTAATGCTCTTGGTGAAAC[A/C]TCTTTTTCCTTTTTCTTTTTTAATC
Phenotype
MIM: 171900
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
PGM1 PubMed Links

Gene Details

Gene
PGM1
Gene Name
phosphoglucomutase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001172818.1 Intron NP_001166289.1
NM_001172819.1 Intron NP_001166290.1
NM_002633.2 Intron NP_002624.2

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