Product Details

SNP ID

rs199691209

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:93612844 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCTGGGAGAAATCTTCAAGAACA[A/G]CCAGGTGCCAGTCCAGTCCAGCATG

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	257	Missense Mutation	AAC,AGC	N40S	NP_006195.3
XM_017016322.1	257	Intron			XP_016871811.1

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