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SNP ID: rs7689163
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.4:56444805 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: GGTTCTCCTTGGGATTGGCGGGGGG[A/G]TCTCTCTAAGACGAAGTTATCTTTA
Phenotype: MIM: 172439 MIM: 172450
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: PAICS PubMed Links

Gene Details

Gene: PAICS
Gene Name: phosphoribosylaminoimidazole carboxylase; phosphoribosylaminoimidazolesuccinocarboxamide synthase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001079524.1		Intron			NP_001072992.1
NM_001079525.1		Intron			NP_001072993.1
NM_006452.3		Intron			NP_006443.1
XM_011534366.1		Intron			XP_011532668.1

Gene: PPAT
Gene Name: phosphoribosyl pyrophosphate amidotransferase

There are no transcripts associated with this gene.

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