Product Details

SNP ID

rs30884

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:149858353 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTTGCAAATTTTTAGCATGTTATTG[C/T]CATTTTCAACTTCTGGTTTATTTGT

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	5245	UTR 3			NP_000431.2
XM_011537650.2	5245	Intron			XP_011535952.1
XM_011537651.2	5245	Intron			XP_011535953.1
XM_011537652.1	5245	Intron			XP_011535954.1
XM_011537653.2	5245	Intron			XP_011535955.1
XM_011537654.2	5245	Intron			XP_011535956.1
XM_017009572.1	5245	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	5245	Intron			NP_001166169.1
NM_001172699.1	5245	Intron			NP_001166170.1
NM_133263.3	5245	Intron			NP_573570.3
XM_005268372.4	5245	Intron			XP_005268429.1
XM_011537553.2	5245	Intron			XP_011535855.1
XM_011537554.2	5245	Intron			XP_011535856.1
XM_011537555.2	5245	Intron			XP_011535857.1
XM_011537556.2	5245	Intron			XP_011535858.1
XM_011537557.1	5245	Intron			XP_011535859.1

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