Product Details

SNP ID

rs144282468

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:76314111 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCATACATGTTACTTTGAATTTTC[C/T]AGTAGCCACATTAAAAACAGATGAA

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		Intron			NP_002757.2
XM_011525034.2		Intron			XP_011523336.1

Gene

QRICH2

Gene Name

glutamine rich 2

There are no transcripts associated with this gene.

View Full Product Details