Product Details

SNP ID
rs182695532
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:24233249 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGATTCATCGCTACCCCGAGGCTAA[A/G]CGCCATGCCTCATATTGACAACGAT
Phenotype
MIM: 610781 MIM: 603171 MIM: 604319
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
GMPR2 PubMed Links

Gene Details

Gene
GMPR2
Gene Name
guanosine monophosphate reductase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001002000.2 137 UTR 5 NP_001002000.1
NM_001002001.2 137 UTR 5 NP_001002001.1
NM_001002002.2 137 UTR 5 NP_001002002.1
NM_001283021.1 137 UTR 5 NP_001269950.1
NM_001283022.1 137 Missense Mutation AAC,AGC N17S NP_001269951.1
NM_001283023.1 137 UTR 5 NP_001269952.1
NM_016576.4 137 Missense Mutation AAC,AGC N17S NP_057660.2
XM_005267740.3 137 UTR 5 XP_005267797.1
XM_005267741.3 137 UTR 5 XP_005267798.1
XM_005267742.3 137 UTR 5 XP_005267799.1
XM_006720165.2 137 UTR 5 XP_006720228.1
XM_017021356.1 137 UTR 5 XP_016876845.1
XM_017021357.1 137 UTR 5 XP_016876846.1
XM_017021358.1 137 UTR 5 XP_016876847.1
XM_017021359.1 137 UTR 5 XP_016876848.1
XM_017021360.1 137 Intron XP_016876849.1
Gene
NEDD8
Gene Name
neural precursor cell expressed, developmentally down-regulated 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006156.2 137 Intron NP_006147.1
Gene
NEDD8-MDP1
Gene Name
NEDD8-MDP1 readthrough
There are no transcripts associated with this gene.

Gene
TINF2
Gene Name
TERF1 interacting nuclear factor 2
There are no transcripts associated with this gene.

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