Product Details

SNP ID

rs140213362

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:14978038 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGAGTGACAACACTACTCTGCCTG[C/T]TCCAGCTTCAAACCAGGGTCCTACC

Phenotype

MIM: 601190

Polymorphism

C/T, Transition 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	375	Missense Mutation	GCT,GTT	A9V	NP_006196.1
XM_017019431.1	375	Missense Mutation	GCT,GTT	A9V	XP_016874920.1

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