Product Details

SNP ID

rs116289813

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:74262552 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAGATCCTGGTTCTGCCCCTGGC[C/T]GTGTGAACTCAGTGATGTCTTTTCT

Phenotype

MIM: 608987 MIM: 611117

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

P4HA3 PubMed Links

Gene Details

Gene

P4HA3

Gene Name

prolyl 4-hydroxylase subunit alpha 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001288748.1		Intron			NP_001275677.1
NM_182904.4		Intron			NP_878907.1

Gene

PPME1

Gene Name

protein phosphatase methylesterase 1

There are no transcripts associated with this gene.

View Full Product Details