Product Details

SNP ID

rs17110632

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.5:149858124 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGTAGATTAAAAGAGACTTCAGAAA[C/G]TTAACCATGGCTATGTGAGGTGATG

Phenotype

MIM: 180071 MIM: 608886

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

PDE6A PubMed Links

Additional Information

For this assay, SNP(s) [rs78827133] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

PDE6A

Gene Name

phosphodiesterase 6A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000440.2	5474	UTR 3			NP_000431.2
XM_011537650.2	5474	Intron			XP_011535952.1
XM_011537651.2	5474	Intron			XP_011535953.1
XM_011537652.1	5474	Intron			XP_011535954.1
XM_011537653.2	5474	Intron			XP_011535955.1
XM_011537654.2	5474	Intron			XP_011535956.1
XM_017009572.1	5474	Intron			XP_016865061.1

Gene

PPARGC1B

Gene Name

PPARG coactivator 1 beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001172698.1	5474	Intron			NP_001166169.1
NM_001172699.1	5474	Intron			NP_001166170.1
NM_133263.3	5474	Intron			NP_573570.3
XM_005268372.4	5474	Intron			XP_005268429.1
XM_011537553.2	5474	Intron			XP_011535855.1
XM_011537554.2	5474	Intron			XP_011535856.1
XM_011537555.2	5474	Intron			XP_011535857.1
XM_011537556.2	5474	Intron			XP_011535858.1
XM_011537557.1	5474	Intron			XP_011535859.1

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