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SNP ID

rs34755867

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:56443110 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTTCCCAATGACTGAGGTAATTT[C/T]TAAAGAGAGCATCAAATTAATTTTG

Phenotype

MIM: 172439 MIM: 172450

Polymorphism

C/T, 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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