Product Details

SNP ID

rs1131978

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:93612977 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CAGAGCAGGGGGTTCACAGGGCCCT[A/G]CAGAGGCTGGCCCACCTGCTCCAGG

Phenotype

MIM: 600827

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PDE6C PubMed Links

Gene Details

Gene

PDE6C

Gene Name

phosphodiesterase 6C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006204.3	390	Silent Mutation	CTA,CTG	L84L	NP_006195.3
XM_017016322.1	390	Intron			XP_016871811.1

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