Product Details

SNP ID

rs11538835

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:16246891 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCGAAATTCAAAGCAGACCTACT[C/T]AGGGATTCCCATCATCGTGGCCAAC

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	239	Missense Mutation	TCA,TTA	S46L	NP_006868.3
XM_011514508.2	239	Missense Mutation	TCA,TTA	S46L	XP_011512810.1

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