Product Details

SNP ID

rs1246072

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.2:231742713 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CTTGTGATCAGACTCTCTTCCCAAA[C/G]AAGAGAGTCTCTACCTTGTGGAAGG

Phenotype

MIM: 602676

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PDE6D PubMed Links

Gene Details

Gene

PDE6D

Gene Name

phosphodiesterase 6D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291018.1		Intron			NP_001277947.1
NM_002601.3		Intron			NP_002592.1
XM_011511342.1		Intron			XP_011509644.1

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