Product Details

SNP ID: rs199813683
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.21:33505685 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGTCAAATTCTACACGATTTTTATA[C/T]AGTTTATGATTAATTACCTGTAATA
Phenotype: MIM: 138440
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: GART PubMed Links

Gene Details

Gene: GART
Gene Name: phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000819.4	2912	Silent Mutation	CTA,CTG	L867L	NP_000810.1
NM_001136005.1	2912	Silent Mutation	CTA,CTG	L867L	NP_001129477.1
NM_001136006.1	2912	Silent Mutation	CTA,CTG	L867L	NP_001129478.1
NM_175085.2	2912	Intron			NP_780294.1
XM_005260941.1	2912	Silent Mutation	CTA,CTG	L867L	XP_005260998.1
XM_006723989.1	2912	Silent Mutation	CTA,CTG	L867L	XP_006724052.1
XM_006723990.1	2912	Silent Mutation	CTA,CTG	L867L	XP_006724053.1
XM_011529526.1	2912	Silent Mutation	CTA,CTG	L867L	XP_011527828.1