Product Details

SNP ID: rs112496764
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.4:56469687 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCAACAAAGATGACGTAACTGCCCT[G/T]CATTGTAAAGTGGTATGCCTTATCC
Phenotype: MIM: 172439 MIM: 602122
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: PAICS PubMed Links

Gene Details

Gene: PAICS
Gene Name: phosphoribosylaminoimidazole carboxylase; phosphoribosylaminoimidazolesuccinocarboxamide synthase

There are no transcripts associated with this gene.

Gene: SRP72
Gene Name: signal recognition particle 72

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001267722.1	184	Silent Mutation	CTG,CTT	L48L	NP_001254651.1
NM_006947.3	184	Silent Mutation	CTG,CTT	L48L	NP_008878.3
XM_005265765.4	184	Silent Mutation	CTG,CTT	L163L	XP_005265822.3

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