Product Details

SNP ID

rs56003458

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:76313203 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACAGAAGCACCTGACAGTACCTTG[A/T]GTGTCTGTCAGAGGCGGGCGCAGTC

Phenotype

MIM: 601249

Polymorphism

A/T, Transversion 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.

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