Product Details

SNP ID
rs149099375
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:44707760 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAAATTCAGTGCTCACCTTTAAAG[G/T]ATTTCACAGTTTTAACTCTTAATTC
Phenotype
MIM: 613222
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
GNPDA2 PubMed Links

Gene Details

Gene
GNPDA2
Gene Name
glucosamine-6-phosphate deaminase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001270880.1 855 Missense Mutation TAC,TCC Y220S NP_001257809.1
NM_001270881.1 855 Missense Mutation TAC,TCC Y184S NP_001257810.1
NM_138335.2 855 Missense Mutation TAC,TCC Y254S NP_612208.1
Gene
GUF1
Gene Name
GUF1 homolog, GTPase
There are no transcripts associated with this gene.

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