Product Details

SNP ID

rs3814815

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24232826 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCAAGGTGGTCTTTGGTCAACTGCC[G/T]CCTGGACCAAGGCAACAGGAAGTGA

Phenotype

MIM: 610781 MIM: 603171 MIM: 604319

Polymorphism

G/T, Transversion 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	405	UTR 5			NP_001002000.1
NM_001002001.2	405	Intron			NP_001002001.1
NM_001002002.2	405	Intron			NP_001002002.1
NM_001283021.1	405	Intron			NP_001269950.1
NM_001283022.1	405	Intron			NP_001269951.1
NM_001283023.1	405	Intron			NP_001269952.1
NM_016576.4	405	Intron			NP_057660.2
XM_005267740.3	405	Intron			XP_005267797.1
XM_005267741.3	405	UTR 5			XP_005267798.1
XM_005267742.3	405	Intron			XP_005267799.1
XM_006720165.2	405	Intron			XP_006720228.1
XM_017021356.1	405	UTR 5			XP_016876845.1
XM_017021357.1	405	Intron			XP_016876846.1
XM_017021358.1	405	UTR 5			XP_016876847.1
XM_017021359.1	405	Intron			XP_016876848.1
XM_017021360.1	405	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	405	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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