Product Details

SNP ID

rs111283754

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:49001645 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCGTGAGGTTGGAATCCTGGGAC[A/C]TGAGTAGGCTCAGGGTGGGAGTGCC

Phenotype

MIM: 614584 MIM: 606031

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

P4HTM PubMed Links

Gene Details

Gene

P4HTM

Gene Name

prolyl 4-hydroxylase, transmembrane

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_177938.2		Intron			NP_808807.2
NM_177939.2		Intron			NP_808808.1

Gene

WDR6

Gene Name

WD repeat domain 6

There are no transcripts associated with this gene.

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