Product Details

SNP ID

rs11798017

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:6770582 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAAAGTCAGCACACATCACACAGC[C/T]GCACATTCTCTAATGCAAACTAACC

Phenotype

MIM: 306480

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PUDP PubMed Links

Gene Details

Gene

PUDP

Gene Name

pseudouridine 5'-phosphatase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135565.1		Intron			NP_001129037.1
NM_001178135.1		Intron			NP_001171606.1
NM_001178136.1		Intron			NP_001171607.1
NM_012080.4		Intron			NP_036212.3

View Full Product Details