Product Details

SNP ID

rs147000954

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:149860910 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCAGTGGTGTTACTGGATGCAGCA[A/G]GACTTGGATGTAGTTGCACCCCCTG

Phenotype

MIM: 180071 MIM: 608886

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PDE6A PubMed Links

Gene Details

Gene

PDE6A

Gene Name

phosphodiesterase 6A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000440.2	1757	Silent Mutation	TCC,TCT	S856S	NP_000431.2
XM_011537650.2	1757	Silent Mutation	TCC,TCT	S561S	XP_011535952.1
XM_011537651.2	1757	Silent Mutation	TCC,TCT	S507S	XP_011535953.1
XM_011537652.1	1757	Silent Mutation	TCC,TCT	S497S	XP_011535954.1
XM_011537653.2	1757	Silent Mutation	TCC,TCT	S497S	XP_011535955.1
XM_011537654.2	1757	Silent Mutation	TCC,TCT	S497S	XP_011535956.1
XM_017009572.1	1757	Silent Mutation	TCC,TCT	S775S	XP_016865061.1

Gene

PPARGC1B

Gene Name

PPARG coactivator 1 beta

There are no transcripts associated with this gene.

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