Product Details

SNP ID

rs2233626

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:14979340 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATACCCAAGGCAGAAGATCTGTGAA[C/G]ACATAGAAATGTGGGGATTTAATTT

Phenotype

MIM: 601190

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PDE6H PubMed Links

Gene Details

Gene

PDE6H

Gene Name

phosphodiesterase 6H

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006205.2		Intron			NP_006196.1
XM_017019431.1		Intron			XP_016874920.1

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