Product Details

SNP ID

rs10459

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.17:76311656 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TATCCACAGTCTTTATCTTGGGACA[C/T]TGCAGCTTCTGAACCTCATGAGGGA

Phenotype

MIM: 601249

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PRPSAP1 PubMed Links

Gene Details

Gene

PRPSAP1

Gene Name

phosphoribosyl pyrophosphate synthetase associated protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002766.2	1490	Silent Mutation	CAA,CAG	Q348Q	NP_002757.2
XM_011525034.2	1490	Silent Mutation	CAA,CAG	Q245Q	XP_011523336.1

Gene

QRICH2

Gene Name

glutamine rich 2

There are no transcripts associated with this gene.

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