Product Details

SNP ID

rs10067462

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:149863201 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CGTACTCATCAGCAAGCGCCTTCCA[C/T]TCCTTGCGATTGTTGGTGATCCCGT

Phenotype

MIM: 180071 MIM: 608886

Polymorphism

C/T, 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	1613	Silent Mutation	GAA,GAG	E808E	NP_000431.2
XM_011537650.2	1613	Silent Mutation	GAA,GAG	E513E	XP_011535952.1
XM_011537651.2	1613	Silent Mutation	GAA,GAG	E459E	XP_011535953.1
XM_011537652.1	1613	Silent Mutation	GAA,GAG	E449E	XP_011535954.1
XM_011537653.2	1613	Silent Mutation	GAA,GAG	E449E	XP_011535955.1
XM_011537654.2	1613	Silent Mutation	GAA,GAG	E449E	XP_011535956.1
XM_017009572.1	1613	Silent Mutation	GAA,GAG	E727E	XP_016865061.1

Gene

PPARGC1B

Gene Name

PPARG coactivator 1 beta

There are no transcripts associated with this gene.

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