Product Details

SNP ID
rs201677741
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:24240544 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGTGCCCATGGCTAGGTCTGCTGT[G/T]TATATCGCATGTTCTTCCTTGCTCT
Phenotype
MIM: 610781 MIM: 603171 MIM: 190195 MIM: 604319
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
GMPR2 PubMed Links

Gene Details

Gene
GMPR2
Gene Name
guanosine monophosphate reductase 2
There are no transcripts associated with this gene.

Gene
NEDD8
Gene Name
neural precursor cell expressed, developmentally down-regulated 8
There are no transcripts associated with this gene.

Gene
NEDD8-MDP1
Gene Name
NEDD8-MDP1 readthrough
There are no transcripts associated with this gene.

Gene
TGM1
Gene Name
transglutaminase 1
There are no transcripts associated with this gene.

Gene
TINF2
Gene Name
TERF1 interacting nuclear factor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001099274.1 810 Nonsense Mutation TAA,TAC *312Y NP_001092744.1
NM_012461.2 810 Nonsense Mutation TAA,TAC *312Y NP_036593.2
XM_005267529.3 810 Nonsense Mutation TAA,TAC *277Y XP_005267586.1
XM_011536642.2 810 UTR 3 XP_011534944.1
XM_017021216.1 810 Nonsense Mutation TAA,TAC *98Y XP_016876705.1
XM_017021217.1 810 Nonsense Mutation TAA,TAC *98Y XP_016876706.1

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