Product Details

SNP ID

rs61750199

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:8003624 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCCTGGTCACCGCCCCCCAGGAC[C/T]TGTGGGTGGAGGCGGGACGCTCACT

Phenotype

MIM: 600179

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GUCY2D PubMed Links

Gene Details

Gene

GUCY2D

Gene Name

guanylate cyclase 2D, retinal

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000180.3	577	Silent Mutation	CTG,TTG	L193L	NP_000171.1
XM_011523816.1	577	Missense Mutation	CTG,TTG	L193L	XP_011522118.1

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