Product Details

SNP ID

rs144318505

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:109376098 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTACCCATCTTTGTCCACTGGTG[C/G]GGGCACAGGAAGGGGCTTCATGAAG

Phenotype

MIM: 300041

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GUCY2F PubMed Links

Gene Details

Gene

GUCY2F

Gene Name

guanylate cyclase 2F, retinal

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001522.2	3496	Missense Mutation	CCA,GCA	P1074A	NP_001513.2

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