Product Details

SNP ID

rs200089377

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:16246909 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTACTCAGGGATTCCCATCATCG[C/T]GGCCAACATGGACACTGTGGGCACG

Phenotype

MIM: 139265

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GMPR PubMed Links

Gene Details

Gene

GMPR

Gene Name

guanosine monophosphate reductase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006877.3	257	Missense Mutation	GCG,GTG	A52V	NP_006868.3
XM_011514508.2	257	Missense Mutation	GCG,GTG	A52V	XP_011512810.1

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