Product Details

SNP ID
rs181901772
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219504088 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGCCTGCTCTGTCCTCAGGTATT[A/G]CACTATGTGGAGAAACCCAGCACAT
Phenotype
MIM: 615495
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
GMPPA PubMed Links

Gene Details

Gene
GMPPA
Gene Name
GDP-mannose pyrophosphorylase A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_013335.3 518 Silent Mutation TTA,TTG L165L NP_037467.2
NM_205847.2 518 Silent Mutation TTA,TTG L165L NP_995319.1
XM_005246483.3 518 Silent Mutation TTA,TTG L165L XP_005246540.1
XM_005246486.3 518 Silent Mutation TTA,TTG L165L XP_005246543.1
XM_011511032.2 518 Silent Mutation TTA,TTG L165L XP_011509334.1
XM_017003906.1 518 Silent Mutation TTA,TTG L165L XP_016859395.1
XM_017003907.1 518 Silent Mutation TTA,TTG L165L XP_016859396.1
XM_017003908.1 518 Silent Mutation TTA,TTG L165L XP_016859397.1
XM_017003909.1 518 Silent Mutation TTA,TTG L165L XP_016859398.1
XM_017003910.1 518 Silent Mutation TTA,TTG L165L XP_016859399.1
XM_017003911.1 518 Silent Mutation TTA,TTG L165L XP_016859400.1
XM_017003912.1 518 Silent Mutation TTA,TTG L165L XP_016859401.1
XM_017003913.1 518 Silent Mutation TTA,TTG L165L XP_016859402.1
XM_017003914.1 518 Silent Mutation TTA,TTG L40L XP_016859403.1
XM_017003915.1 518 Silent Mutation TTA,TTG L40L XP_016859404.1
XM_017003916.1 518 Silent Mutation TTA,TTG L40L XP_016859405.1
XM_017003917.1 518 Silent Mutation TTA,TTG L40L XP_016859406.1
Gene
LOC100996693
Gene Name
CAVP-target protein-like
There are no transcripts associated with this gene.

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