Product Details

SNP ID: rs199790304
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.4:56469678 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TACTACAGATCAACAAAGATGACGT[A/T]ACTGCCCTGCATTGTAAAGTGGTAT
Phenotype: MIM: 172439 MIM: 602122
Polymorphism: A/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	175	Silent Mutation	GTA,GTT	V45V	NP_001254651.1
NM_006947.3	175	Silent Mutation	GTA,GTT	V45V	NP_008878.3
XM_005265765.4	175	Silent Mutation	GTA,GTT	V160V	XP_005265822.3

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