Product Details

SNP ID

rs142518689

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:33549782 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATCTGAGACCAATGAATCCCCTG[C/T]AGTTGTGCTAGAACCTCCTGTAGTA

Phenotype

MIM: 138440 MIM: 182465

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GART PubMed Links

Gene Details

Gene

GART

Gene Name

phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase

There are no transcripts associated with this gene.

Gene

MIR6501

Gene Name

microRNA 6501

There are no transcripts associated with this gene.

Gene

SON

Gene Name

SON DNA binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291411.1	606	Missense Mutation	GCA,GTA	A184V	NP_001278340.1
NM_001291412.1	606	Intron			NP_001278341.1
NM_032195.2	606	Missense Mutation	GCA,GTA	A184V	NP_115571.2
NM_138927.2	606	Missense Mutation	GCA,GTA	A184V	NP_620305.2

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