Product Details

SNP ID: rs77399495
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.4:56435849 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AACAGTAGCGTAATGGGAGTAACGG[A/T]CTTAACCTCATTTCTCTTTCAGAGC
Phenotype: MIM: 172439 MIM: 172450
Polymorphism: A/T, Transversion substitution
Allele Nomenclature
Literature Links: LOC100506514 PubMed Links

Gene Details

Gene: LOC100506514
Gene Name: uncharacterized LOC100506514

There are no transcripts associated with this gene.

Gene: PAICS
Gene Name: phosphoribosylaminoimidazole carboxylase; phosphoribosylaminoimidazolesuccinocarboxamide synthase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001079524.1	101	Intron			NP_001072992.1
NM_001079525.1	101	Intron			NP_001072993.1
NM_006452.3	101	UTR 5			NP_006443.1
XM_011534366.1	101	Intron			XP_011532668.1

Gene: PPAT
Gene Name: phosphoribosyl pyrophosphate amidotransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002703.4	101	Intron			NP_002694.3
XM_011534387.1	101	Intron			XP_011532689.1

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